Tag: WGS

DNA Sequencing – Definition, Principle, Steps, Types, Applications

What is DNA Sequencing? DNA sequencing is a fundamental process that involves determining the precise order of nucleotides in a DNA molecule. The nucleotides, namely adenine, guanine, cytosine, and thymine, make up the genetic code and provide vital information about an organism’s traits and characteristics. With the advent of rapid…

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cannot find genes with abricate and VFDB

cannot find genes with abricate and VFDB 0 hello, I am looking for some virulence factors in aeromonas genomes. I use abricate and VFDB yet I can’t find what I need (I know the genes are present as the samples are PCR positive and I also found them in the…

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What is Urinary Tract Tuberculosis?

IntroductionThe problemClinical presentationTypes of Urinary TBComplicationsDiagnosis Management References Further Reading ​​​​​​​​​​​​​​Introduction Urinary tract tuberculosis is usually caused by the bacilli spread through the bloodstream from chronic latent pulmonary tuberculosis. In many cases, the condition’s occurrence goes unrecognized, mistaken for those coincident symptomatic urinary tract infections (UTIs) by other microbes. Tuberculosis (TB) is the…

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Apply for samples

BioResource biobanking We extract DNA from blood or saliva donated by our participants. The DNA is quality controlled, banked  and then analysed to study genetic variation by genotyping. We also store plasma and serum from blood samples. All samples are sent to the NIHR-funded National Biosample Centre (NBC) in Milton Keynes, for processing,…

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DNA Sequencing Market to Surpass US$ 14,755.5 Million by 2030, Says Coherent Market Insights (CMI)

CMI Next-Gen DNA Sequencing Solutions: Empowering Precision Medicine & Genetic Research for Advancements in Healthcare & Biotechnology Burlingame, June 07, 2023 (GLOBE NEWSWIRE) — According to Coherent Market Insights, Global DNA Sequencing Market is estimated to be valued at US$ 6,802.2 million in 2023 and is expected to exhibit a CAGR…

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switching from illumination to NEB prep kits

switching from illumination to NEB prep kits 0 Hi all, we already have built some pipelines for germline / somatic calling on WES data ( the library prep kits used were from Illumina). now we want to switch to using NEB library kits, and I would like to know (rom…

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DNA Sequencing Market to Surpass US$ 14,755.5 Million by

Burlingame, June 07, 2023 (GLOBE NEWSWIRE) — According to Coherent Market Insights, Global DNA Sequencing Market is estimated to be valued at US$ 6,802.2 million in 2023 and is expected to exhibit a CAGR of 11.7% during the forecast period (2023-2030). Analysts’ Views on Global DNA Sequencing Market: Rising demand for…

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Stanford Health Care hiring Senior Bioinformatics Scientist in Palo Alto, California, United States

This is a Stanford Health Care job. A Brief Overview Senior Staff Scientist will be part of a growing clinical genomics team of bioinformaticians, lab scientists, data curation scientists, clinicians and medical fellows. The Clinical Genomics Program (CGP) is a collaboration between Stanford Hospitals and Stanford School of Medicine to…

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Newborn genome testing expands – Medical Device Network

Image credit: Getty Images / Rasi Bhadramani As approximately 37% of critically ill newborn genomes identify a causal genetic disease, researchers and science companies are using whole genome sequencing (WGS) to develop new programmes and tools. “Many of these genetic conditions often manifest in newborn babies and children, presenting complex…

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Whole genome sequencing of Mycobacterium bovis directly from clinical tissue samples without culture

. 2023 May 18;14:1141651. doi: 10.3389/fmicb.2023.1141651. eCollection 2023. Affiliations Expand Affiliation 1 National Veterinary Services Laboratories, Veterinary Services, Animal and Plant Health Inspection Service, United States Department of Agriculture, Ames, IA, United States. Item in Clipboard Mohamed Zeineldin et al. Front Microbiol. 2023. Show details Display options Display options Format AbstractPubMedPMID…

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CEDARS-SINAI Postdoctoral Scientist – Bioinformatics and Integrative Genomics Research Cluster in Sacramento, CA | 844690591

At Cedars-Sinai,postdoctoral scientists and other junior researchers fulfill a critical role inexpanding the horizons of medical knowledge through biomedical research. Byhosting more than 100 postdocs, who conduct vital research and receive advancedtraining with expert faculty mentors, Cedars-Sinai supports theongoing medical education process that continues beyond PhD/MD graduation.   Overview: Bioinformaticsand Integrative Genomics  …

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Escherichia coli ST2797 as a novel emerging extended-spectrum beta-lactamase Escherichia coli

In a recent study published in the Microbiology Spectrum Journal, researchers suggest that Escherichia coli ST2797 could potentially be a new type of extended-spectrum beta-lactamase (ESBL) Escherichia coli.   Study: Escherichia coli ST2797 Is Abundant in Wastewater and Might Be a Novel Emerging Extended-Spectrum Beta-Lactamase E. coli. Image Credit: snvv18870020330/Shutterstock.com Background Antibiotic-resistant bacteria are increasingly…

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Discrimination of monozygotic twins using mtDNA heteroplasmy through probe capture enrichment and massively parallel sequencing

Oosthuizen T, Howes LM (2022) The development of forensic DNA analysis: new debates on the issue of fundamental human rights. Forensic Sci Int Genet 56:102606 Article  CAS  PubMed  Google Scholar  Nwawuba Stanley U et al (2020) Forensic DNA profiling: autosomal short tandem repeat as a prominent marker in crime investigation….

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Unraveling the epidemiology of Mycobacterium bovis using whole-genome sequencing combined with environmental and demographic data

. 2023 May 17;10:1086001. doi: 10.3389/fvets.2023.1086001. eCollection 2023. Gianluigi Rossi  1   2 , Barbara Bo-Ju Shih  1 , Nkongho Franklyn Egbe  3 , Paolo Motta  4 , Florian Duchatel  1 , Robert Francis Kelly  5 , Lucy Ndip  6   7 , Melissa Sander  8 , Vincent Ngwang Tanya  9 , Samantha J Lycett  1   2 , Barend…

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Low-pass whole genome sequencing is a reliable and cost-effective approach for copy number variant analysis in the clinical setting

ABSTRACT We evaluated the performance of low-pass whole genome sequencing (LP-WGS) to detect copy number variants (CNVs) in clinical cytogenetics. DNA samples with known CNVs detected by chromosomal microarray analyses (CMA) were selected for comparison; our panel included 44 DNA samples (12 prenatal and 32 postnatal), comprising a total of…

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Senior Scientist/ Scientist, Bioinformatics at Fate Therapeutics, Inc.

Fate Therapeutics is looking for a Senior Scientist or Scientist with expertise in bioinformatics to join the Molecular Engineering team.    The primary focus for this position will be to independently develop, optimize, and implement NGS pipelines to support advancement of Fate’s gene editing platform. The position will also establish, modify,…

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Tumor Fraction Retains Strong Prognostic Value for Advanced Non-small Cell Lung Cancer

In the phase 2 UNICANCER SAFIR02-Lung/IFCT1301 trial (SAFIR02-Lung; NCT02117167) investigating the association of circulating tumor DNA (ctDNA) tumor fraction (TF) with survival in patients with advanced non-small cell lung cancer (NSCLC) administered maintenance durvalumab (Imfinzi; AstraZeneca), TF was positive in 16% of patients, explained Filippo Gustavo Dall’Olio, MD, during a…

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Why is coordinate sort required before findng read depths?

Why is coordinate sort required before findng read depths? 1 I have a wgs dataset and when I attempt use it with sambamba depth command, it gives sambamba-depth: All files must be coordinate-sorted error. What is the reason for this and why coordinate sorting is required? wgs sambamba • 28…

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Refining the evolutionary tree of the horse Y chromosome

Reporting MSY haplogroups in horse populations around the globe A previously-released fine-scale MSY HT topology23,24 provided the basis for the selection of 16 MSY diagnostic markers for major haplogroups (mjHGs) in modern horse breeds. Genotyping these markers helped to differentiate Przewalski’s horses’, as well as six non-Crown and three Crown…

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Gut Microbial Dysbiosis May Play Role in R-CHOP Response in DLBCL

Gut microbial dysbiosis appears to play a role in the development of diffuse large B-cell lymphoma (DLBCL) and its responsiveness to rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisolone (R-CHOP), according to research published in Blood. Enterobacteriaceae-family members also appear to be more abundant in patients with febrile neutropenia and those with…

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Rare Disease Screen

The world’s most comprehensive Carrier Screening & Rare Disease DNA Report. A single genetic screen for more than 1,200 rare diseases, syndromes, conditions, and traits. The app analyzes genetic data from a person and provides clear information about whether that person is likely to be affected by, or be a carrier…

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How to extract haplotype data from phased bcf files

How to extract haplotype data from phased bcf files 1 Hello, I have filtered/processed phased bcf files from wgs. I would like to extract the haplotype data per sample, so that I have a tab delim file which looks like this: Sample Chr Pos hap1 hap2 AW23 chr1 1234 A…

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Characterization of metagenome-assembled genomes from the International Space Station | Microbiome

Metagenome-assembled bacterial genomes Out of the 42 ISS metagenomes submitted at NCBI, only PMA-treated metagenomes (n = 21) representing the viable/intact cells were used for generating bacterial MAGs. Characteristics of MAGs (n = 46) such as genome size (2.6 to 6.6 Mb), completeness, contamination percentage, the average mean coverage, number…

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The famous WGS dataset, Ashkenazi Trio?

The famous WGS dataset, Ashkenazi Trio? 0 I need information about one of the most famous wgs datasets, Askenazi NA24385 HG002. Where can I find valuable information of the datasets and their bed files? wgs dataset • 39 views • link updated 1 hour ago by cmdcolin ★ 3.0k •…

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Illumina Complete Long Reads software analysis workflow for human WGS

Introduction Next-generation sequencing (NGS) enables scientists to decipher the genome for a deeper understanding of biology. Proven Illumina sequencing by synthesis (SBS) chemistry combined with award-winning DRAGEN secondary analysis delivers whole-genome sequencing (WGS) data with outstanding accuracy.1,2 DRAGEN Multigenome (graph) further improves mapping accuracy in challenging regions by ~50%.1 Still,…

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including samples for which group is unknown to help adjust for another variable

Hi, I want to compare the mRNA expression in cancer patients that have a specific mutation vs. cancer patients that don’t have said mutation, using data from TCGA. I’m trying to combine data from two different tumor types (LUSC and LUAD), which I know is not appropriate to do given…

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Multi-ethnic genome study unlocks new genetic links to health conditions

Human health status can be determined based on the circulating metabolite levels. Although it is important to understand the genetic architecture of these metabolites, to date, they are not well understood. Considering this research gap, a recent Nature Communications study focused on performing whole-genome sequencing analysis of circulating human metabolites in a…

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New variants of human metapneumovirus surge in Spain post-COVID, highlighting evolution and impact

An important aetiologic agent of upper respiratory tract infection (URTI) and lower respiratory tract infection (LRTI) in adults and children is the human metapneumovirus (HMPV). A recent Journal of Infection study explores the genetic diversity, prevalence, and evolutionary dynamics of HMPV. Study: The emergence, impact, and evolution of human metapneumovirus variants…

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Buccal Swab Added as WGS Sample Collection Option

GeneDx announced the availability of its GenomeXpress and GenomeSeqDx whole genome sequencing (WGS) tests with buccal swabs as an alternative sample collection option for biological parents or other immediate family members. Sequencing biological parent genomes alongside patient genomes—known as trio analysis—aids in disease diagnosis and greatly increases diagnostic yield rates. “We…

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To call variants can I use my aligned WGS data as a reference genome

To call variants can I use my aligned WGS data as a reference genome 0 Hi, I have several yeast WGS data for different time data points. I wanna call variants depending on the first time point WGS data(I already map my samples with bowtie). But I could not figure…

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Michigan Imputation Server – Local docker image

Michigan Imputation Server – Local docker image 0 Hi, Due to clinical data and not meeting the minimum sample of 20, I hope to use the Michigan Imputation Server locally via its’ Docker image. I got couple of questions that I hope others can help: I tried to do this…

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University of Pittsburgh School of Medicine hiring Postdoc associate in bioinformatics in Pittsburgh, Pennsylvania, United States

Post Doctoral Associate in biostatistics and bioinformatics for liver research Genomics and Systems Biology Core Pittsburgh Liver Research Center Pittsburgh Liver Research Center (PLRC, livercenter.pitt.edu/) is currently accepting applicants. Specifically, this position will focus on the field of biostatistics and bioinformatics analysis of genomic data, supervised by Dr. Silvia Liu…

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DanMAC5: a browser of aggregated sequence variants from 8,671 whole genome sequenced Danish individuals | BMC Genomic Data

Demographics Data from three studies were included: Dan-NICAD: 1,649 individuals with symptoms of obstructive coronary artery disease, predominantly chest pain, undergoing coronary computed tomography angiography. In total, 52% were females, the mean age was 57 years (+/- 9 SD), median coronary artery calcium score were 0 [0–82] and 24% of…

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Scholarships and Career Opportunities: Postdoctoral in bioinformatics

Description of the workplaceThe Cardiovascular research – Translational studies is studying cardiovascular disease with a focus on biological differences that underlie acute complications such as heart attacks and strokes. The research is translational and includes studies of human tissue and several in-vitro models. The group has for many years been…

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St. Jude Children’s Research Hospital hiring Bioinformatics Research Scientist in Memphis, Tennessee, United States

OverviewWe are seeking a talented, highly motivated Lead-Bioinformatics Analyst to facilitate and undertake next-generation sequencing (NGS) projects in the Department of Developmental Neurobiology (DNB). In this position, you will be a shared resource for research groups in DNB. You will have the opportunity to work with top scientists in the…

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Gene expression in African Americans, Puerto Ricans and Mexican Americans reveals ancestry-specific patterns of genetic architecture

We analyzed data from a total of 2,733 participants from the GALA II16 and SAGE17 asthma case–control studies who self-identified as African American (AA; n = 757), Puerto Rican (PR; n = 893), Mexican American (MX; n = 784) or other Latino American (LA; n = 299) (Table 1 and Supplementary Table 1). The median age of the…

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DNA Sequencing Market Is Expected To Progress at a CAGR of

New York, May 26, 2023 (GLOBE NEWSWIRE) — According to Market.us, the DNA Sequencing Market size is projected to surpass around USD 40.5 billion by 2032 and it is poised to reach a CAGR of 15.3% from 2023 to 2032. DNA sequencing technology refers to the technology which allows scientists for…

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Variant calling in WES vs WGS

Variant calling in WES vs WGS 2 I used SnpEff tool to annotate variants in whole exome sequencing data. However, most variants in the results came out as intron and intergenic variant types. What can be the reason behind it? I couldn’t find a specific command for WES data in…

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Statistical modeling based of Australian native possum excreta identifies locations of Buruli ulcer occurrence in humans

In a recent article published in the eLife Journal, researchers launched a possum excreta surveillance program across 350 km2 in the Mornington Peninsula near South Melbourne, Australia. The study aimed to gather data that could help predict future human Buruli ulcer (BU) case locations via statistical modeling. The 2022 outbreak…

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JPM | Free Full-Text | Determination of the Duplicated CYP2D6 Allele Using Real-Time PCR Signal: An Alternative Approach

1. Introduction The Cytochrome P450 (CYP) superfamily of enzymes are involved in the metabolism of a range of xenobiotics and their evolution parallels the need for host protection against environmental and food-produced toxins [1,2]. One critically important member is the CYP2D6 hepatic enzyme owing to its involvement in the metabolism…

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Kelly hiring Bioinformatics Scientist – NIH – Rockville, MD in Rockville, Maryland, United States

Kelly Government Solutions is a strategic supplier and business partner to the federal government and its key suppliers. Through our partnership with the National Institutes of Health, Kelly Government Solutions offers administrative, IT, engineering, scientific, and healthcare professionals the opportunity to work with the leading medical research center in the…

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Extrachromosomal DNA contributes to cancerous transformation of Barrett’s esophagus

Despite the diversity inherent to cancer, they all share a common theme: many things tend to go wrong. This can make it difficult to understand which factors are driving the cancer and which ones are consequences of this aberrant growth. Such distinctions are important to understand when considering disease mechanisms…

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Team Compares Reference Panels for Sub-Saharan African Population Imputation

For a paper appearing in Cell Genomics, a University of Witwatersrand-led team compares genotype imputation across five reference panels comprised of roughly 10,900 samples from sub-Saharan African (SSA) populations. As part of the “Africa-Wits INDEPTH Partnership for Genomics Studies in African populations,” or AWI-Gen, study, the team imputed data from…

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Beyond short-reads: Harnessing long-read sequencing for population-scale genomic insights

  Large-scale population sequencing programs have a number of important research goals and outcomes. These include: Generating a comprehensive catalogue of genetic variation to reflect the genetic diversity in a target population. Maximizing discovery power through accurate variant calling across all variant classes and throughout the entire human genome including…

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Postdoctoral in bioinformatics – Academic Positions

Lund University, Faculty of Medicine, Department of Clinical Sciences, Malmö Description of the workplaceThe Cardiovascular research – Translational studies is studying cardiovascular disease with a focus on biological differences that underlie acute complications such as heart attacks and strokes. The research is translational and includes studies of human tissue and…

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DNA Printing, Bioengineered Kidney Constructs in Space, Revvity’s Big Pharma Agreements, More

May 24, 2023 | The Association for Molecular Pathology releases recommendations for germline variants detected by NGS, 10x Genomics wins German injunction against NanoString Technologies, and Revvity—formerly PerkinElmer—announces new license agreement with AstraZeneca. Plus new products and deployments from DNA Script, Thermo Fisher, Model N, GenScript, and more. Clear Labs…

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CDC updates Papa Murphy’s Salmonella Cookie Dough Outbreak

18 with Salmonella Enteritidis in Washington, Oregon, California, Idaho, Utah and Missouri. “Cookie Dough has been an ongoing Salmonella risk to consumers,” said William Marler.  “However, in recent years the suspected contaminated ingredient as turned from eggs to flour, which to most consumers is both unsettling and unusual,” added Marler. CDC, public…

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How to Split 3000 WGS CRAM files into 1Mbp length chunks

How to Split 3000 WGS CRAM files into 1Mbp length chunks 1 Hello, I have 3000 WGS CRAM files and I want to split them into 1Mbp chunks. I want to split with exact genomic coordinate locations, e.g. starting from 1 to 1000000bp, 1000001bp to 2000000bp, 2000001bp to 3000000 etc….

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Transforming Healthcare with Whole Genome Sequencing

In recent years, a groundbreaking technology called Whole Genome Sequencing (WGS) has emerged, revolutionizing the field of genetic testing and transforming healthcare as we know it. This cutting-edge technique allows scientists to analyze a person’s entire genome, providing unprecedented insights into their genetic makeup. In this blog post, we will…

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GenBank Overview

2 hours ago Article URL: www.ncbi.nlm.nih.gov/genbank/ Comments URL: news.ycombinator.com/item?id=36038722 Points: 1 # Comments: 0 GenBank OverviewWhat is GenBank?GenBank ® is the NIH genetic sequence database, an annotated collection of all publicly available DNA sequences (Nucleic Acids Research, 2013 Jan;41(D1):D36-42). GenBank is part of the International Nucleotide Sequence Database Collaboration, which…

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Faster detection of somatic structural variants

The cost of short-read sequencing is set to plummet tenfold or more within the next two years1. This will particularly disrupt precision oncology, where targeted tumour sequencing is an increasingly important part of clinical decision-making. Whole-genome sequencing (WGS) may soon be cheaper and more convenient than targeted genomic panels, paving…

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Clear Labs Launches Microbial Surveillance Whole Genome Sequencing Solution

SAN CARLOS, Calif. (PRWEB) May 22, 2023 Clear Labs, a leader in next-generation sequencing automation workflow solutions, announces the launch of the Clear Dx™ Microbial Surveillance WGS, a fully-automated, end-to-end whole genome sequencing (WGS) solution for bacterial and fungal isolates. This groundbreaking application sets a new standard for speed,…

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Genetic insights unveil promising therapeutic targets for critical COVID-19

Over 6.93 million deaths have occurred due to critical illness following infection with the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the agent responsible for the coronavirus disease 2019 (COVID-19). The lack of reliable predictive markers has made it difficult to triage cases requiring more intensive care before they become…

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NGS Sample Preparation Market is expected to advance at a CAGR of 13.7% from 2022 to 2032

[342 Pages Report] The global NGS sample preparation market is expected to be valued at $5441.1 million by 2032, up from $1321.8 million in 2022, and to grow at a 13.7% CAGR during the forecast period (2022-2032). DNA contains the blueprints of life. Within its structures are the codes required for the…

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Variant calling analysis

Variant calling analysis 0 I am trying to filter a VCF file so that the filtered file has a VAF of less than 50% and a depth of at least 200 for variant supporting bases. The output VCF file should be sorted by chromosome and should retain the VCF header,…

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Rutgers University hiring Informatics Specialist (Bioinformatics) in Newark, New Jersey, United States

Below you will find the details for the position including any supplementary documentation and questions you should review before applying for the opening. To apply for the position, please click the Apply for this Job link/button.If you would like to bookmark this position for later review, click on the Bookmark…

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From 24 Hours to 7 Minutes, Huawei OceanStor Pacific Accelerates Genome Sequencing – High-Performance Computing News Analysis

Challenges & Requirements [SPONSORED GUEST ARTICLE]   International Supercomputing Conference (ISC) is an annual conference that showcases the key technologies in the supercomputing field. It brings together experts from multiple specialist fields, including research into life sciences and genetics to shed light on the origins and mysteries in our lives. HPC,…

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Increasing Demand for Safe and Healthy food is Driving the Food Safety Testing Market

PRESS RELEASE Published May 19, 2023 Food safety testing is the analysis of food samples to detect the presence of harmful contaminants. Contaminants can include bacteria, viruses, toxins, and chemicals. Food safety testing is used to protect consumers from foodborne illness. Food safety testing can be performed on raw ingredients,…

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Identify the underlying mechanism associated with the initiation of focal amplification in breast cancer

In breast cancer, the focal amplification of oncogenes plays a critical role in oncogenesis. A recent study published in Nature used whole-genome sequencing (WGS), RNA sequencing, and epigenomic data to identify the underlying mechanism associated with the initiation of focal amplification in breast cancer. Study: ERα-associated translocations underlie oncogene amplifications in breast…

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Soniazid and ethionamide in Mycobacterium tuberculosis

Introduction Tuberculosis (TB), caused by Mycobacterium tuberculosis, is one of the leading causes of death worldwide and caused 1.6 million deaths and 10.6 million new cases in 2021.1 Despite decades of efforts to adopt measures to control TB, achieving the goal of ending TB has been delayed due to a…

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Sequencing 101: Sequencing coverage – PacBio

 This article explores sequencing coverage fundamentals. Uncover key concepts and discover how highly accurate long-read sequencing provides a comprehensive view of the genome, at any coverage level.  What is sequencing coverage? Genomics professionals use the terms “sequencing coverage” or “sequencing depth” to describe the number of unique sequencing reads that…

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Microbiome Sequencing Services Market Value to Grow USD 555

Microbiome Sequencing Services Market The microbiome sequencing services market is projected to grow from USD 284 million in 2023 to USD 555 million by 2028 at a CAGR of 14.3%. Expanding applications of microbiome sequencing in therapeutics development serves as a key opportunity for the players operating in this market….

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Microorganisms | Free Full-Text | 16S-23S rRNA Internal Transcribed Spacer Region (ITS) Sequencing: A Potential Molecular Diagnostic Tool for Differentiating Lactococcus garvieae and Lactococcus petauri

1. Introduction Lactococcosis is a serious septicemic fish disease in Mediterranean countries. Lactococcus garvieae was considered the sole causative agent of lactococcosis until recently. L. garvieae has been isolated as a causative agent of the disease in several freshwater and marine species such as rainbow trout (Oncorhynchus mykiss), tilapia (Oreochromis…

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Candidemia case caused by a drug-resistant Candida auris

Introduction Candida auris is a human fungal pathogen, first isolated in Japan in 2009.1 Since then, many C. auris isolates have been reported worldwide.2–4 This pathogen can contaminate the environment around the patients who were colonized by the fungus, and can survive for long periods in major outbreaks.5 Recent studies…

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Inivata Careers – Senior Bioinformatics Scientist

Are you motivated to participate in a dynamic, multi-tasking environment? Do you want to join a company that invests in its employees? Are you seeking a position where you can use your skills while continuing to be challenged and learn? Then we encourage you to dive deeper into this opportunity….

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Whole genome sequencing identifies candidate genes and mutations that can explain diluted and other colour varieties of domestic canaries (Serinus canaria)

The domestic canary (Serinus canaria) is one of the most common pet birds and has been extensively selected and bred over the last few centuries to constitute many different varieties. Plumage pigmentation is one of the main phenotypic traits that distinguish canary breeds and lines. Feather colours in these birds,…

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Sr./Principal Scientist, Bioinformatics at Frontier Medicines

Frontier Medicines is seeking a highly motivated and experienced Senior/Principal Scientist in Bioinformatics or Computational Biology to join an emerging Bioinformatics group embedded in our growing Data Sciences team. The ideal candidate has proven experience in the analysis of high-dimensional omics data derived from multiple platforms (such as RNA-seq, Chip-seq,…

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A novel approach to quantify personal information contained within gut metagenome data

In a recent study published in Nature Microbiology, researchers used shotgun sequencing to extract human reads from deoxyribonucleic acid (DNA) in fecal samples of 343 Japanese individuals comprising the main dataset of this study. They used this gut metagenome data to reconstruct personal information. Some study participants also provided whole…

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Genomapp review – 7 facts you should know [MAY 2023]

Genomapp Review Summary Genomapp offers a free DNA analysis app that customers can use to purchase reports. Learn more in our Genomapp review! Fiyin Ebemidayo, B.S. Summary Genomapp sells individual reports that analyze DNA and provide results on its app. Most customers felt that the platform was informative and easy…

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How to Diagnose Fragile X from Whole Genome Sequencing

Following this post. Perhaps you can indicate if I’m on the right track, although I’m a complete amateur now. We know that the FMR1 gene is located in: chrX:147,911,919-147,951,125 Your size is: 39,207 bases So I exactly “snipped” the above sequence, which is exactly 39,207 characters from a 30x Whole-Genome…

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Copy number alteration features in pan-cancer homologous recombination deficiency prediction and biology

Data collection for HRD prediction model training and validation For the development of the HRD prediction model, 1854 samples (WGS data) from the pan-cancer analysis of whole genomes9 (PCAWG) and 560 breast cancer samples (SNP array data)16 are collected. To obtain a high-confidence training dataset of HRD, samples with BRCA1/2…

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Microorganisms | Free Full-Text | Whole-Genome Sequencing of Shiga Toxin-Producing Escherichia coli for Characterization and Outbreak Investigation

1. Introduction Shiga toxin-producing Escherichia coli (STEC) is a Gram-negative foodborne pathogen that was estimated to cause ~265,000 infections, 3600 hospitalizations, and 30 deaths in the U.S. each year [1]. Most patients with STEC infections develop diarrhea and abdominal pain, though hemolytic uremic syndrome (HUS) and kidney failure can occur,…

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Paternity Testing from WGS Trio

It is definitely possible to assess paternity from whole genome sequence (WGS) data. Paternity can probably be established with as little as a few dozen or maybe hundreds of well-chosen single nucleotide polymorphisms (SNPs). If you have decent WGS data you can expect to genotype millions of SNPs. So, paternity…

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Specialty Genomics Bioinformatics Scientist I (Production) Job Opening in Indianapolis, IN at Labcorp Drug Development – USA

Job Description: If you are looking for a company where you can gain exposure to a wide variety of science and explore a multitude of career paths across the drug development spectrum, consider working at Labcorp Drug Development as a Bioinformatics Scientist I (Prod). In this role, you will join…

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Pre-test and post-test genetic counseling

Introduction The yield of genetic prenatal diagnosis has been notably improved by introducing whole genome chromosomal microarray (CMA) analysis, which is now recommended in all cases with structural anomalies,1 allowing an additional diagnostic yield as compared to karyotyping of up to 10%.2,3 Moreover, recent data suggest that the expected diagnostic…

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Genome Sequencing – CeGaT GmbH

Genome sequencing is also known as whole genome sequencing (WGS), full genome sequencing, or complete genome sequencing. Using this approach, the entirety of the genomic information is sequenced. Thus, the complete genome of a sample is analyzed at a single time. This means that in addition to the chromosomal DNA,…

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ESHG 2023

The annual ESHG conference is the major scientific and professional event in human genetics which brings together European and international geneticists. Illumina will be attending with a booth and participating in two workshops.  Sunday 11th June, 18:30 – 20:00  “Whole-genome sequencing (WGS) breaking frontiers on patient care”.  Monday 12th June, 14:00 –…

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Whole-genome sequencing in B-cell lymphomas for circulating tumor DNA analysis by multiplex digital PCR for disease monitoring

WGS data of paired tumor and normal samples in 9 patients (6 diffuse large B-cell lymphomas, 1 transformed follicular lymphoma and 2 follicular lymphoma) with a median depth of 37X (range: 27-50X).  The study was approved by the Stockholm Regional Ethical committee (2017/2538-31) and conducted in accordance with the Declaration…

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New Products Posted to GenomeWeb: Bio-Techne, Grifols, Genome Insight, Genialis, Lucence

Bio-Techne RNAscope In Situ Hybridization Probes Kappa and Lambda Bio-Techne has launched two RNAscope in situ hybridization probes, kappa and lambda, as analyte-specific reagents for the detection of immunoglobulin kappa and lambda light chains mRNA in B cells — important biomarkers for assessing B-cell clonality. RNAscope probes are visualized with…

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biomodal hiring Bioinformatics Scientist in Great Chesterford, England, United Kingdom

Permanent/Full time, London or Cambridge, UK Hybrid working options available. About Us: Join the multiomic revolution! Over the last 20 years, genomic technologies have enabled significant discoveries that bring the promise of personalized medicine closer than ever before. But after two decades of research, it’s clear that genetic variation only…

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5 highlights at first Genomics and Precision Medicine Expo

Genomics and Precision Medicine Expo – taking place on May 23 and 24 2023 at ExCeL London – has announced its top 5 highlights for this year’s inaugural conference. The event, which is being run in partnership with Genomics England, will explore the latest advancements and developments in genome sequencing…

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Two New York Genome Center research teams selected as grant recipients

NEW YORK, NY (May 11, 2023) – The National Institutes of Health (NIH) Common Fund has selected the New York Genome Center (NYGC) as a multi-grant recipient under the Somatic Mosaicism across Human Tissues (SMaHT) Network. NEW YORK, NY (May 11, 2023) – The National Institutes of Health (NIH) Common Fund…

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Two New York Genome Center research teams sel

image: NYGC Logo view more  Credit: New York Genome Center NEW YORK, NY (May 11, 2023) – The National Institutes of Health (NIH) Common Fund has selected the New York Genome Center (NYGC) as a multi-grant recipient under the Somatic Mosaicism across Human Tissues (SMaHT) Network. The awarded grants will fund two…

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Demand for Long Read Sequencing is expected to surge at a CAGR

Long Read Sequencing Market The global Long Read Sequencing Market was valued at 1.5 billion in 2022 and it is anticipated to grow up to USD 6.0 billion by 2032, at a CAGR of 14.8% during the forecast period. To Remain ‘Ahead’ Of Your Competitors, Request for A Sample –…

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Hospital Surveillance Sequencing Helps Link Cases to Nationwide Contaminated Eyedrop Outbreak

NEW YORK – A whole-genome sequencing (WGS)-based hospital outbreak surveillance program has helped researchers at the University of Pittsburgh to identify two drug-resistant Pseudomonas aeruginosa infections associated with a national outbreak of contaminated eyedrops. While the cases were ruled out as in-hospital transmissions, the findings illustrate the potential value of…

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Genetic immune escape landscape in primary and metastatic cancer

Inference of HLA-I tumor status with LILAC Inference of the correct HLA-I tumor status is fundamental to identifying GIE alterations (Fig. 1a), to estimate the neoepitope repertoire and burden and to predict the response to immune checkpoint inhibitors14,15 (ICIs). We have developed LILAC, a framework that performs HLA-I typing for…

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Targeted Sequencing Market Size, Share and Trends Analysis to 2030

PRESS RELEASE Published May 11, 2023 InsightAce Analytic Pvt. Ltd. announces the release of a market assessment report on the “Global Targeted Sequencing Market Market Size, Share & Trends Analysis Report By Product Type (Instruments, Kits/Panels And Assays, Services), Target Enrichment Method (Hybridization Capture, Amplicon Sequencing), Type Of Target Capture (Targeted…

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GeneDx Q1 Revenues Fall 20 Percent but Beat Consensus Estimate

NEW YORK – GeneDx said Tuesday after market close that its first quarter revenues fell 20 percent to $43.1 million from $53.9 million a year ago but easily outstripped the Wall Street consensus estimate of $38.0 million. Almost all revenues in the three months ended March 31 came from diagnostic testing….

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James Cook University hiring Postdoctoral Research / Research Fellow, Bioinformatics in Cairns, Queensland, Australia

Brief Summary Join a dynamic team of research professionals to engage in collaboration and conduct research in Biomedicine at JCU Excellent research facilities and infrastructure Ongoing professional and career development support Work alongside world-leading Scientists Five weeks annual leave | cash out annual leave | time in lieu options Enjoy…

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UMiami Researchers to Study Cell Therapy Response in Lymphoma Using WGS, Single-Cell RNA-seq

NEW YORK – Researchers at the University of Miami’s Sylvester Comprehensive Cancer Center are launching a research project that will use whole-genome sequencing as well as single-cell transcriptomics to study tumor resistance to cell therapies. Last month, the team announced a three-year, $1.5 million grant from the US Department of…

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Whole Genome Sequencing for Cancer Arrives in the U.S. with Genome Insight

Up until now, genomics-based cancer detection tests have relied on gene panels. A whole genome sequencing (WGS) test has not been a viable option for multiple reasons, including the expense and the large amount (and complexity) of the data generated. However, given the falling cost of next generation sequencing (NGS),…

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Genome Insight Launches in the U.S. with Innovative Whole Genome Sequencing Approach that Offers Unprecedented, Actionable Insights in Cancer Care

–CancerVision designed to democratize fast, affordable cancer analysis and diagnosis with broadened access to complete genomic information– –Company opened San Diego-based corporate headquarters– SAN DIEGO, May 8, 2023 /PRNewswire/ — Genome Insight, a leading precision medicine and genomics company, announced today the U.S. launch of CancerVision,…

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CEDARS-SINAI Postdoctoral Scientist – Bioinformatics and Integrative Genomics Research Cluster in Sacramento, CA | 839444399

At Cedars-Sinai,postdoctoral scientists and other junior researchers fulfill a critical role inexpanding the horizons of medical knowledge through biomedical research. Byhosting more than 100 postdocs, who conduct vital research and receive advancedtraining with expert faculty mentors, Cedars-Sinai supports theongoing medical education process that continues beyond PhD/MD graduation.   Overview: Bioinformaticsand Integrative Genomics  …

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Xbb: Omicron Sub-variants Behind Minor Rise In Cases | Kochi News

Kochi: XBB 1.16 is still the dominant Omicron sub-variant that is driving the surge of Covid-19 cases in Kerala in April, followed by XBB 1.22 sub-variant that has been reported for first time in Kerala, according to a whole genome sequencing (WGS) study conducted by a private hospital in Kerala….

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Mitochondrial genome sequencing for investigating genetic diseases

Mitochondria are double-membraned organelles in cytoplasm of almost all eukaryotic cells. They play important roles in energy production, immune response, epigenetic regulation, apoptosis, and many other metabolic and signaling processes. Mitochondrial DNA sequencing for the diagnosis of genetic diseases Mitochondrial disease is one of the most common genetic diseases, but…

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Sequencing the Soil Microbiome 20 Years after the Human Genome Project

The famous double-helix structure of the molecule was published in Nature just 50 years prior, in April 1953, thanks to work done by Dr. Rosalind Franklin. Setting out to sequence the full human genome was a groundbreaking venture with impacts in fundamental genetics research, biological data sharing, and how scientists…

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GeneDx Adds Buccal Swab as Non-Invasive Whole Genome Sequencing Sample Collection Option

New Option Enables Easier DNA Sample Collection from Biological Parents to Aid in Disease Diagnosis STAMFORD, Conn., May 04, 2023 (GLOBE NEWSWIRE) — GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic and clinical insights, today announced the availability of its GenomeXpress® and GenomeSeqDx® whole genome sequencing…

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Study finds it’s cost-effective to diagnose intellectual disabilities with whole genome sequencing

Cumulative progression of diagnostic yield per cohort. Credit: Scientific Reports (2023). DOI: 10.1038/s41598-023-33787-8 Researchers at Karolinska Institutet and Karolinska University Hospital have together with health economists at Linköping University analyzed costs for various methods to diagnose genetic causes of intellectual disability. The study, published in Scientific Reports, shows that the…

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2023-05-04 | NDAQ:WGS | Press Release

New Option Enables Easier DNA Sample Collection from Biological Parents to Aid in Disease Diagnosis STAMFORD, Conn., May 04, 2023 (GLOBE NEWSWIRE) — GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic and clinical insights, today announced the availability of its GenomeXpress® and GenomeSeqDx® whole genome sequencing…

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GeneDx Adds Buccal Swab as Non-Invasive Whole Genome

STAMFORD, Conn., May 04, 2023 (GLOBE NEWSWIRE) — GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic and clinical insights, today announced the availability of its GenomeXpress® and GenomeSeqDx® whole genome sequencing tests with buccal swabs as an alternative sample collection option for biological parents or other…

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