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Tag: WES
Understanding the Role of Rare Genetic Variants and Their Impact on Health
Understanding the Role of Rare Genetic Variants Recent research on the UK Biobank cohort, a large-scale genetic data set, has shed light on the significant role of rare genetic variants (RVs) in complex trait heritability. The study confirms that these RVs account for a substantial portion of the complex trait…
Short tandem repeat mutations regulate gene expression in colorectal cancer
A novel STR panel for human protein-coding genes To explore STR mutations in CRC, we first annotated STRs in the introns, exons, and promoter sequence of all protein-coding genes in the GRCh38 reference genome (“Methods”). We discarded STR loci for which genotyping was expected to be inaccurate due to genomic…
Team Leader Bioinformatics – Ryvu Therapeutics, Krakow
Team Leader Bioinformatics – Ryvu Therapeutics, Krakow Team Leader Bioinformatics Ryvu Therapeutics Krakow, Poland As Bioinformatics Team Leader you will be responsible for development of this area within Data Science department which includes managing and growing the team, setting and executing short and long term plans, propagating collaboration with other…
Anavex Life Sciences (AVXL) Announces First Entire Clinical Gene Pathway Data of ANAVEX2-73 from AVATAR Study in Patients with Rett Syndrome
Anavex Life Sciences Corp. (“Anavex” or the “Company”) (Nasdaq: AVXL), a clinical-stage biopharmaceutical company developing differentiated therapeutics for the treatment of neurodegenerative and neurodevelopmental disorders including Alzheimer’s disease, Parkinson’s disease, Rett syndrome and other central nervous system (CNS) diseases, today announced the first entire clinical gene pathway data from the…
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India
Russell PSS, Nagaraj S, Vengadavaradan A, Russell S, Mammen PM, Shankar SR, et al. Prevalence of intellectual disability in India: a meta-analysis. World J Clin Pediatr. 2022;11:206–14. Article PubMed PubMed Central Google Scholar Winnepenninckx B, Rooms L, Kooy RF. Mental retardation: a review of the genetic causes. Br J Dev…
Unlocking Genomic Mysteries: Whole Exome Sequencing Market
The global Whole Exome Sequencing Market was valued at USD 1.4 Billion in 2022 and it is anticipated to grow up to USD 7.4 Billion by 2032, at a CAGR of 18.1% during the forecast period. Market Outlook: The Whole Exome Sequencing (WES) market is poised for a groundbreaking decade…
An FGFR2 mutation as the potential cause of a new phenotype including early-onset osteoporosis and bone fractures: a case report | BMC Medical Genomics
Anamnesis vitae A 13 year old male born was as result of the VII pregnancy, from unrelated parents. Other pregnancies resulted in: I-II silent miscarriage in the second trimester; III – female, born in 2003 (III-3 Fig. 1) that has the following phenotypic features: genu valgum, hip dysplasia, combined thoracolumbar scoliosis,…
r – ggplot2 plot using wesanderson – Continuous value supplied to a discrete scale error
I have this code with dataframe that contain 20 cty groups. I wish to plot/assign to each specific cty value a color based on Wes Anderson color palettes (packages(“wesanderson”). Code: library(ggplot2) library(wesanderson) df <- mpg[, c(“displ”,”cyl”, “cty”, “hwy” )] df[-222,] pal <- wes_palette(20, name = “Zissou1”, type = “continuous”) ggplot(df,…
Bioinformatics Software Engineer Consultant Job at ProCogia
ProCogia is a data consulting firm headquartered in Vancouver, BC with employees and clients across the United States and Canada. We specialize in Data Operations, Data Engineering, BI & Analytics, Data Science & Bioinformatics across a broad range of industries including Telecom, Pharma, Biotechnology, Retail, Logistics, Technology, Financial Services, Media…
GISTIC plots
I am pretty new to GISTIC plots. I am making a plot for my WES sample. I have made marker file based on id, chrom and marker positions. After uploading my SEG and marker file, I got an error. GISTIC version 2.0.23 Warning: Number of markers is less than smooth…
Principal Scientist – Bioinformatics (Clinical Development) job with Gilead Sciences, Inc.
Principal Scientist – Bioinformatics (Clinical Development)United States – California – Foster City Gilead Sciences, Inc. is a research-based bio-pharmaceutical company that discovers, develops and commercializes innovative medicines in areas of unmet medical need. With each new discovery and investigational drug candidate, we seek to improve the care of patients living…
Key gene linked to male bias in autism, Tourette’s, and ADHD uncovered
Research has documented a strong male sex bias in attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and Tourette syndrome (TS). Among males, the hemizygous nature of chromosome X (Chr X) has been a known vulnerability factor. Still, the characterization of rare genetic variation in Chr X has not…
Endometrial cancer PDX-derived organoids (PDXOs) and PDXs with FGFR2c isoform expression are sensitive to FGFR inhibition
Patients, tumour Implantation, PDX expansion and characterization The study was conducted according to the Declaration of Helsinki. Tumours were collected from EC patients following Human Research Ethics Committee (HREC) approval (HREC/15/MHS/127) and QUT HREC (#1500000169, 1500000323). All participants provided written informed consent that their excess tissue could be used for…
Apply BSQR for Targeted Sequencing
Apply BSQR for Targeted Sequencing 0 Hi! I am performing variant calling starting from a fasta resulting targeted sequencing of ~320 cancer genes, I followed the GATK best practices aligning with the GrCh38 reference. For the Apply Base Quality Score Recalibration, which files should I use for the “–known-sites” given…
CRISPRi gene modulation and all-optical electrophysiology in post-differentiated human iPSC-cardiomyocytes
A feasibility CRISPRi study was performed in post-differentiated iPSC-CMs targeting key genes important in cardiac electrophysiology. Comprehensive analysis using all-optical electrophysiology and a pipeline enabling correlative analysis of functional and molecular data in the same samples helped quantify the CRISPRi gene modulation in this in vitro model. Time-dependent control of…
the condition has length > 1
absolute running error: Error in if (!is.na(res)) { : the condition has length > 1 0 the following are my R codes: install.packages(“numDeriv”) BiocManager::install(“DNAcopy”) install.packages(“ABSOLUTE_1.0.6.tar.gz”,repos = NULL) library(numDeriv) library(ABSOLUTE) RunAbsolute( seg.dat.fn = “P01_1_GISTIC_segment”, sigma.p = 0, max.sigma.h = 0.2, min.ploidy = 0.5, max.ploidy = 8, primary.disease = “NPC”, platform =…
Mutational spectrum and phenotypic variability of Duchenne muscular dystrophy and related disorders in a Bangladeshi population
DMD is a degenerative, fatal, and incurable muscular dystrophy that is typically diagnosed between the ages of three and four. Affected boys have increasing muscle weakness and cardiorespiratory and orthopedic complications and are at risk of cognitive, behavioral, and language difficulties30. Suspected cases often undergo DMD gene mutation screening to…
How has dna sequencing evolved?
How has the gene therapy evolved over the years?3 answersGene therapy has evolved significantly over the years, bringing about a revolutionary approach in disease therapy. It aims to treat the fundamental cause of disease by introducing exogenous genetic material into the body to target mutated or affected cells. Gene therapy…
Next-Generation Sequencing (NGS) kits Market projected to
Richmond, Dec. 04, 2023 (GLOBE NEWSWIRE) — According to a research report “NGS Kits Market”, By Workflow (Library Preparation, Cluster Generation, Sequencing Reagents/Kits), Sequencing Type (WES and WGS, Targeted Sequencing, Long-Read Sequencing, Others), Usage (Clinical, Research), Application (Oncology, Rare Diseases, Genetic Disorders, Reproductive Health, Others), End-User (Academic and Research Institutions,…
How to Regulate Unsecured “Open-Source” AI: No Exemptions
Wes Cockx & Google DeepMind / Better Images of AI / AI large language models / CC-BY 4.0 Unsecured “open-source” AI systems pose a massive series of threats to society and democracy. They deserve no exemptions and should be regulated just like other high-risk AI systems. Their developers and deployers…
AutoDock Vina 1.2.0: new docking methods, expanded force field, and Python bindings
J Chem Inf Model. Author manuscript; available in PMC 2023 Nov 28. Published in final edited form as: PMCID: PMC10683950 NIHMSID: NIHMS1947068 Jerome Eberhardt aDepartment of Integrative Structural and Computational Biology, Scripps Research, La Jolla, 92037, California, USA Diogo Santos-Martins aDepartment of Integrative Structural and Computational Biology, Scripps Research, La…
ProCogia hiring Bioinformatics Software Engineer Consultant in Vancouver, British Columbia, Canada
ProCogia is a data consulting firm headquartered in Vancouver, BC with employees and clients across the United States and Canada. We specialize in Data Operations, Data Engineering, BI & Analytics, Data Science & Bioinformatics across a broad range of industries including Telecom, Pharma, Biotechnology, Retail, Logistics, Technology, Financial Services, Media…
Greenphire, Florence Healthcare Team Up; Illumina Partnerships; Oxford Nanopore Develops New Data Technology
November 29, 2023 | Greenphire and Florence Healthcare announce a technology partnership; Illumina and Veracyte join together in a multi-year agreement; Oxford Nanopore Technologies collaborates with Fabric Genomics and Saphetor to develop data technology for research; more. Greenphire and Florence Healthcare announced a technology partnership that integrates two of the…
Comprehensive Molecular Tumor Analysis (CMTA) integrating RNAseq and tumor immune microenvironment (TME) for targeted therapy (India)
Precision oncology approaches have made great strides harnessing individual tumor mutation profiles to guide targeted therapy choices. However, deeper molecular insights are needed to improve personalized treatment decisions that are tailored to specific molecular characteristics of a tumor. Integrating gene expression analysis in personalized oncology provides an additional level of…
[maftools]Too many multi_hit and missense mutation
[maftools]Too many multi_hit and missense mutation 0 Describe the issue When using maftools to plot mutational summary data, I encountered some issues: I use WES data to generate a filtered VCF file, and then utilize VEP for annotation to obtain an MAF file. The MAF file contains an excessive number…
Gene expression profiles separate endometriosis lesion subtypes and indicate a sensitivity of endometrioma to estrogen suppressive treatments through elevated ESR2 expression | BMC Medicine
Cea Soriano L, López-Garcia E, Schulze-Rath R, Garcia Rodríguez LA. Incidence, treatment and recurrence of endometriosis in a UK-based population analysis using data from The Health Improvement Network and the Hospital Episode Statistics database. Eur J Contracept Reprod Health Care. 2017;22(5):334–43. Article PubMed Google Scholar Guo SW. Recurrence of endometriosis…
Bioinformatics/Machine Learning/Biomarker Discovery Postdoctoral Fellow Job
Job Description Dr. Xiaoqing Yu’s Lab within the Department of Biostatistics and Bioinformatics, and Dr. Roger Li from Genitourinary Oncology at the H. Lee Moffitt Cancer Center, are jointly seeking a highly motivated, independent, and collaborative postdoctoral research fellow interested in conducting exciting inter-disciplinary projects in multi-omics data analysis and…
Exome and genome sequencing to unravel the precise breakpoints of partial trisomy 6q and partial Monosomy 2q | BMC Pediatrics
Here, we report a proband with characteristic features of the clinical syndrome, including downward-slanting palpebral fissures; delayed development of bilateral optic nerve hypoplasia; facial deformity with a small mouth, thin lips, micrognathia, and blepharophimosis; short neck; abnormal deciduous teeth; and malformations of the thorax and short ribs. The proband showed…
Record Store Day Guide To 14 Unreleased & Reissued Jazz Recordings: Brubeck, Evans, Jamal & More
Rather than provide our usual detailed reviews of these never-before-released and/or reissued jazz recordings, we will instead provide a summary of each in alphabetical order by artist. While we see some of the usual suspects such as Bill Evans, Wes Montgomery, Charles Mingus, and Oscar Peterson, we also see Les…
2024 Co-Op, Bioinformatics job with Moderna, Inc.
The Roles: Exciting opportunities to work with Ph.D.-level computational biologists advancing Modernas mRNA therapeutics platform. This application covers three roles. Candidates with interest and skills fitting one or more of these are encouraged to apply. Our co-op program goes from: January 16th to June 14th 2024. All applicants must be…
Structural Variant Detection Tools Struggle with Whole Exome Sequencing (WES) Data
Whole exome sequencing (WES) is a targeted sequencing technique that sequences only the protein-coding regions of the genome. As WES is significantly cheaper than whole genome sequencing (WGS) while still providing meaningful information, WES has become a respected tool in identifying small genetic variants underlying diseases. It is also used,…
University of Alabama at Birmingham hiring BIOINFORMATICIAN I in Birmingham, Alabama, United States
Position Summary: The primary role is to execute a variety of data management and analysis tasks, ensuring the quality, reproducibility, and efficiency of processes related to high-dimensional data. You will collaborate with study investigators and fellow bioinformatics professionals within the department to contribute to high-quality, reproducible research across various scientific…
Uncertain futures and unsolicited findings in pediatric genomic sequencing: guidelines for return of results in cases of developmental delay | BMC Medical Ethics
Guidelines for informed consent & return of results To tailor informed consent and return of UFs to the situations of children undergoing WES in trio-analysis (in which the parents’ and child’s DNA is sequenced and interpreted) for clarifying a DD, the guidelines we propose contain two important features. Firstly, instead…
Biological and genetic characterization of a newly established human external auditory canal carcinoma cell line, SCEACono2
Ethic statement The Clinical Research Ethics Review Committee of Kyushu University Hospital approved the study (permit no. 29-43, 30-268, and 700-00). Written informed consent for the current research project was obtained before the tumor tissue, and a blood sample were harvested. This study was also conducted according to the principles…
Why do we remove multi-allele when conducting a GWAS or NGS-sequencing analysis?
Why do we remove multi-allele when conducting a GWAS or NGS-sequencing analysis? 1 Hi, Dear all! I am new to GWAS, there exists one question made me sad. I wonder why do we need to remove multi-allele when we conduct a GWAS or NGS-sequencing analysis like WES. I have tried…
Bioinformatics Scientist job with BostonGene
Summary: We are looking for a highly motivated and capable Bioinformatics Scientist with experience and interest in translational cancer research and the development of novel transcriptomic and genomic assays. This position requires experience with scientific programming, relational data systems, algorithm development, and statistical modeling. Key Responsibilities: Act as a core…
Unveiling the transcriptomic and epigenetic secrets across 11 tumors
In a recent study published in Nature, researchers created a pan-tumor transcriptomic and epigenetic atlas using single-nucleus chromatin accessibility information and matched ribonucleic acid (RNA)-sequencing data. Study: Epigenetic regulation during cancer transitions across 11 tumour types. Image Credit: ART-ur/Shutterstock.com The researchers studied the spatiotemporal dynamics of chromatin decondensation and transcriptional…
Python Pandas creator Wes McKinney joins Posit
Python pandas creator Wes McKinney has joined Posit as a principal architect, a move that signals the company’s increasing seriousness about being a key player in the Python universe as well as the R ecosystem. “I will advocate for the needs of the PyData ecosystem in Posit’s work as well…
HLA allele-calling using multi-ancestry whole-exome sequencing from the UK Biobank identifies 129 novel associations in 11 autoimmune diseases
HLA allele calling from WES HLA-HD was used to call HLA alleles for 454,824 participants at 3-field resolution (representing the allele’s serological specificity, HLA protein, and synonymous variants). We used the UKB whole-genome genotyping (unavailable in 1283 participants) projected on the 1000 Genome reference to estimate genetic ancestry. We found…
Quantification of rare somatic single nucleotide variants by droplet digital PCR using SuperSelective primers
Primary samples and nucleic acid extraction A cohort of 48 patients diagnosed with advanced adenoma (AAD), defined by size > 20 mm, or colorectal carcinoma (CRC) were collected between 2013 and 2016. The study was approved by the institutional ethics committee of Hospital General Universitario de Alicante (Ref. CEICPI2013/01), and written informed consent…
Genome sequencing project reveals new secrets about cat evolution
Graphic depicting how trio binning produces parent species genomes from F1 hybrids with an evolutionary timescale on the left. Credit: Dr. William Murphy, Texas A&M University, and colleagues Researchers at the Texas A&M School of Veterinary Medicine & Biomedical Sciences (VMBS) and an interdisciplinary team of collaborators have uncovered new…
Bioinformatics/Machine Learning/Biomarker Discovery Postdoctoral Fellow
Dr. Xiaoqing Yu’s Lab within the Department of Biostatistics and Bioinformatics, and Dr. Roger Li from Genitourinary Oncology at the H. Lee Moffitt Cancer Center, are jointly seeking a highly motivated, independent, and collaborative postdoctoral research fellow interested in conducting exciting inter-disciplinary projects in multi-omics data analysis and cancer biomarker…
Breakthroughs in Diagnostics: Genome Sequencing for proactive paediatric screening
By Dr Madhuri Hegde, FACMG – SVP and Chief Scientific Officer, Revvity, Inc. Next generation of genomics Technological breakthroughs have ushered in the next generation of genomics, enabling clinicians to deliver hyper-personalised, evidence-based prevention and treatment solutions.1 These breakthroughs have enabled researchers to closely investigate an individual’s genetic code, and…
Screening of genes interacting with high myopia and neuropsychiatric disorders
Studies have shown that patients with high myopia have structural changes in their brain white matter, which are important factors contributing to neuropsychiatric disorders16,17. In this study, causative genes for neuropsychiatric disorders were found to account for 22.69% of strongly pathogenic genes in patients with HM, which represents the highest…
Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context
This study aims to inform future genetic reanalysis management by evaluating the yield of whole-exome sequencing (WES) reanalysis in standard patient care in the Netherlands. Single-center data of 159 patients with a neurodevelopmental disorder (NDD), in which WES analysis and reanalysis were performed between January 1, 2014, and December 31,…
Study identifies new mutations with potential link to EDS
Through a genetic analysis of more than 170 patients, researchers have identified new genetic mutations that may cause Ehlers-Danlos syndrome (EDS). “Our results are consistent with the complex genetic architecture of EDS and suggest a number of novel … candidate genes and pathways,” the researchers wrote in the study, “Genetic…
Macy’s New Metaverse Play, Gymshark Taps Google Cloud
The weekly Retail Tech Roundup compiles technology news across the supply chain, manufacturing, retail, e-commerce, logistics and fulfillment sectors. Metaverse Macy’s More from Sourcing Journal Macy’s has debuted Mstylelab, a new digital fashion platform extending the department store’s Web3 capabilities further into the metaverse. The first activation within Mstylelab will include a surrealistic re-creation of New…
Medical genetics server for a developing country
Medical genetics server for a developing country 1 Dear community members, I’ve recently was involved into a project regarding starting medical genetics facility in one of the developing countries. Have to admit – I am more of a “classical” bioinformatician in a Western country and I’ve never experienced shortage of…
Moderna (MRNA) and Caris Life Sciences Enter Multi-Year Strategic Partnership to Advance mRNA-Based Oncology Therapeutics
Caris Life Sciences®(Caris), the leading next-generation AI TechBio company and precision medicine pioneer that is actively developing and delivering innovative solutions to revolutionize healthcare and improve the human condition using molecular science and AI, today announced a new agreement with Moderna (NASDAQ: MRNA) in support of Moderna’s oncology and novel…
Caris Life Sciences and Moderna Announce Multi-Year Strategic Partnership to Advance mRNA-Based Oncology Therapeutics
Partnership enables Moderna to leverage Caris’ vast library of de-identified, multi-modal data and analytics capabilities to accelerate precision medicine and the delivery of novel medicines to patients IRVING, Texas, Oct. 24, 2023 /PRNewswire/ — Caris Life Sciences®(Caris), the leading next-generation AI TechBio company and precision medicine pioneer that is actively…
MODX assignment – DNA Sequencing Method – Enumerate and compare the different DNA sequencing
1. Enumerate and compare the different DNA sequencing methods. (Manual and Automated) Whole genome sequencing (WGS) – is used to determine an organism’s genome sequence for the first time. WGS can also be used to determine variant (mutation) frequencies within organism populations and to link genetic variants to disease via…
Multicentric pilot study to standardize clinical whole exome sequencing (WES) for cancer patients
Paired tumor and normal DNA samples from 30 patients were subjected to WES at four ZPM laboratories with subsequent data analysis performed at five ZPM bioinformatic institutions (Fig. 1). DNA was originally derived from fresh-frozen samples that had been analyzed by WES within the multicenter MASTER (Molecularly Aided Stratification for…
E-IT hiring Bioinformatics Business Analyst in United States
Company Description E-IT Professionals Corp. (EIT) is an award-winning IT consulting, recruitment, management, and staffing organization founded in 1999. EIT is comprised of around 320 Information Technology Consultants and boasts revenues approaching $21M overall. Our dedicated team of professionals in the US and India serves clients from various geographies. We…
R&D and Production Scientist (Liege, Belgium)
Job:Bioinformatician – R&D and Production Scientist (Liege, Belgium) 0 Your Profile Master/PhD, preferably with 2 to 5 years experience as a bioinformatician in the field of genomics WES and WGS analysis. Your mission You will develop NGS bioinformatic pipelines for diagnostic applications using different programming languages You will propose validation…
MUSC College of Health Professions hiring UNIV – Research Specialist III- Bioinformatician – Department of Neuroscience in Charleston, South Carolina, United States
Job Description SummaryThe brand-new MUSC Bioinformatics Core (BioCM) is seeking a superb bioinformatician to develop scientific tools for single cell multiomics and other next-generation sequencing methods. Under the supervision and guidance of BioCM staff and Dr. Stefano Berto, the bioinformatician will contribute to NGS analysis projects, and they will work…
No output detected
To clarify, wes_pgen_12a refers to a set of plink files (.pgen, .pvar, .psam). I have removed some of the backslashes in case those were confusing the program, and now have: plink2 –pfile “${pgen_path}wes_pgen_12a” \ –pmerge “${pgen_path}wes_pgen_12b.pgen” \ “${pgen_path}wes_pgen_12b.pvar” \ …
Target Sequencing and Resequencing Market Will Grow at CAGR of 23.06% By 2032
The global target sequencing and resequencing market size is anticipated to reach around USD 45.72 billion by 2032 up from USD 5.74 billion in 2022 with a CAGR of 23.06% between 2023 and 2032. Targeted sequencing, often known as resequencing, is a technique for sequencing a sample’s partial genome or…
NGS Sample Preparation Market worth $6.80 billion by 2030,
NGS Sample Preparation Market | 360iResearch The “NGS Sample Preparation Market by Product (Reagents & Consumables, Workstations), Workflow (DNA, Library Preparation, Quality Control), Technology, Application, End-User – Global Forecast 2023-2030” report has been added to 360iResearch.com‘s offering. Request Sample Copy of this Report @ www.360iresearch.com/library/intelligence/ngs-sample-preparation?utm_source=openpr&utm_medium=referral&utm_campaign=sample Market Segmentation & Coverage: This…
Senior Bioinformatics Scientist (Hybrid) Job Description
Job Description We are seeking a highly motivated bioinformatics scientist to join our global research team. The scientist will evaluate, develop, and optimize computational methods to analyze next-generation sequencing datasets in support of our drug discovery and development programs, and will produce bioinformatics pipelines that can be operated on high-performance computing…
OBM Genetics | Whole Genome Sequencing in Era of Newborn Screening
Abstract After the completion of the human genome project, there have been many advances in the field of genetics. With next generation sequencing, patients can undergo genomic analysis through whole exome or whole genome testing. These comprehensive tests can shorten the diagnostic odyssey and guide medical management and thereby potentially…
The Foundation for Tomorrow’s Medicines: Complete Accessible Sequencing Solutions
Sponsored content brought to you by Founded in 2005, Complete Genomics was the first to make whole genome sequencing (WGS) services affordable. Now, the company provides complete solutions to sequencing labs with an installed base of over 3,000 instruments. “We proved that routine WGS, the ultimate genetic test, is feasible…
Early Detection Demand and Innovative Systems Usher in New Era for Rare Disease Genetic Testing
DUBLIN, Oct. 3, 2023 /PRNewswire/ — The “Rare Disease Genetic Testing Market – A Global and Regional Analysis: Focus on Disease Type, Offering, Specialty Type, Sample Type, Trait Type, Technology, Age Group, End User, and Country Analysis – Analysis and Forecast, 2023-2033” report has been added to ResearchAndMarkets.com‘s offering. Research_and_Markets_Logo The global…
Miami University hiring Student Specialist – Bioinformatics in Oxford, Ohio, United States
Job TitleStudent Specialist- BioinformaticsSalary/Grade$12.00 / hrHours Per Week12Duration Of AppointmentAcademic yearJob SummaryBioinformatics analyses of large molecular biology datasets, including, but not limited to RNA-Seq, amplicon (16S, 18S, ITS) metagenomics/microbiome analyses, WES, WGS, ATAC-Seq, and proteomics (MS).Essential DutiesWork independently, good written and oral communication skills, formal report writing, and ability to…
Is there any way i can determine the kit used for library preparation for whole exome sequencing from fastq files?
Is there any way i can determine the kit used for library preparation for whole exome sequencing from fastq files? 0 We have sent our samples to a vendor for WES sequencing, I want to confirm which kit he used for the library preparation is there any way to confirm…
Regeneron Pharmaceuticals – Bioinformatics Scientists – Tarrytown, NY
Job Title Associate Scientist-Bioinformatics Job Location Tarrytown, NY Job Overview Implement and develop cutting-edge computational biology methods Explore therapeutic avenues in various disease-related fields Participate in cross-functional collaborations for multi-dimensional cell profiling, therapeutic target discovery, biomarker identification, patient stratification, and therapy design Tailor and optimize computational methods for high-throughput analysis…
Clinical Next-Generation Sequencing (NGS) Data Analysis Market estimated valuation of US$ 13.1 Billion by 2033 Growth Accelerating with Increasing Adoption of NGS Sequencing Services: FMI
As per Future Market Insights’ latest industry analysis, the valuation for the global Clinical Next-Generation Sequencing (NGS) Data Analysis Market was around US$ 2.3 Billion in 2022, and the market is projected to exhibit growth at a CAGR of 17.4% over the forecast period, with an estimated valuation of around…
Scalable Integrative Analysis of Large Biobank-Scale Whole Genome Sequencing Studies With Functional Data
Whole Genome/Exome Sequencing (WGS/WES) data and Electronic Health Records (EHRs), such as large scale national and institutional biobanks, have emerged rapidly worldwide. In this talk, I will discuss the analytic tools and resources for scalable analysis of large scale biobank- and population-based Whole Genome Sequencing (WGS) association studies of common…
Bioinformatics Scientist – II (Associate) – Cambridge
Innova Solutions is immediately hiring for a Bioinformatics Scientist – II Position type: Full time, Contract Job Title: Bioinformatics Scientist – II (Associate) Location: Cambridge or Boston Massachusetts Duration: 13+ months of contract Pay range: $72 to $77 per hour on W2 Job Description: The Data, AI & Genome Sciences…
MWIDM hiring Bioinformatics Scientist in Boston, MA
ob Description: Qualifications: Education Minimum Requirement: Ph.D. in Bioinformatics, Biostatistics, Computational biology, Computer Science, Genetics, Immunology, Mathematics, Molecular Biology, Statistics, or related field -or- Masters’ degree in the above disciplines, with 3 years of relevant experience or B.S with 6+years of relevant experience. Required Experience and Skills: Passion to solve…
Net2Source Inc. hiring Associate Bioinformatics Scientist in Cambridge, MA
JOB TITLE: Bioinformatics Scientist – II (Associate) LOCATION: Boston ( 33 Avenue Louis Pasteur, Boston, MA 02115, United States) Cambridge MA (320 Bent St, Cambridge, MA 02141, United States) DURATION: 12 months Note: we need someone experienced with analyzing and interpreting existing pipeline/Dataset (not building pipeline) which is a more…
Genome-Based Prediction of Bacterial Antibiotic Resistance
Abdelbary M, Basset P, Blanc D et al (2017) In: Tibayrenc M (ed) Genetics and evolution of infectious diseases: the evolution and dynamics of methicillin-resistant Staphylococcus aureus, 2nd edn. Elsevier, pp 553–572. ISBN: 9780127999425 CrossRef Google Scholar Allard MW, Stevens EL, Brown EW (2019) All for one and one for…
Fibroblast Growth Factor Receptor 2 (FGFR2), a New Gene Involved in the Genesis of Autism Spectrum Disorder
The ASD patient described here showed a mutation in the FGFR2 gene, located in the chromosomal band 10q26 (Fig. 1a) and encoding the fibroblast growth factor receptor type 2. It belongs to the family of tyrosine kinase receptors (including FGFR1, FGFR3, and FGFR4) that regulate several biological processes, including bone development,…
Leukemic Presentation and Progressive Genomic Alterations of MCD/C5 Diffuse Large B-cell Lymphoma (DLBCL)
Diffuse large B-cell lymphoma (DLBCL) is a very heterogenous group, subdivided into germinal-center (GC)-derived and activated B-cell (ABC) types. Advances in molecular methodologies, including whole exome sequencing (WES) and chromosomal microarrays (CMA), have fostered molecular subclassification of DLBCL, while improving our understanding of their pathogenic mechanisms and resistance to therapy….
IJNS | Free Full-Text | Whole-Genome Sequencing Can Identify Clinically Relevant Variants from a Single Sub-Punch of a Dried Blood Spot Specimen
1. Introduction Newborn screening (NBS) plays a vital role in healthcare systems for the prompt identification of individuals who may develop one of a set of rare, but severe health conditions [1]. In the UK, for example, dried blood spot (DBS) specimens are routinely collected at 4–5 days of age…
Best Tools and Practices for CNV Variant Calling in WES Data
Best Tools and Practices for CNV Variant Calling in WES Data 0 Hi Everyone, What are the best tools for CNV variant calling in the context of whole exome sequencing (WES) analysis? I’m currently working on a project focused on CNV detection in autistic subjects, where we aim to strike…
A biobank of pediatric patient-derived-xenograft models in cancer precision medicine trial MAPPYACTS for relapsed and refractory tumors
Patient characteristics and PDX establishment Between February 2016 and July 2020, 787 pediatric, adolescent and young adult patients with recurrent or refractory malignancies were enrolled in the MAPPYACTS trial;2 756 (96%) patients and their parents consented to the optional ancillary study of preclinical model development (Fig. 1a). 744 patients had a…
Researchers identify a rare cause of male infertility and discover a potential cure
In a recent study published in the eBioMedicine journal, researchers investigated the genetic underpinning of asthenozoospermia, the leading cause of male fertility. Study: Deficiency in AK9 causes asthenozoospermia and male infertility by destabilising sperm nucleotide homeostasis. Image Credit: WHITE MARKERS/Shutterstock.com Their multidisciplinary examinations were able to identify adenylate kinase 9 (AK9), an enzyme…
Genomic Strategies in Mitochondrial Diagnostics
Pathogenic variants in both mitochondrial and nuclear genes contribute to the clinical and genetic heterogeneity of mitochondrial diseases. There are now pathogenic variants in over 300 nuclear genes linked to human mitochondrial diseases. …more Pathogenic variants in both mitochondrial and nuclear genes contribute to the clinical and genetic heterogeneity of…
The impact of mutational clonality in predicting the response to immune checkpoint inhibitors in advanced urothelial cancer
Genomic analysis and cohort description We generated whole-exome sequencing (WES) and RNA sequencing (RNA-Seq) data from tumors and blood samples from 27 advanced urothelial cancer patients treated with anti-PD-1/PD-L1 ICIs at Hospital del Mar (Fig. 1a). WES data was obtained from the tumors before treatment as well as from blood samples,…
Investigation of blood group genotype prevalence in Korean population using large genomic databases
Previous studies have attempted to elucidate the distribution of RBC antigen phenotypes and genotypes in the Korean population. However, conventional serological methods have proven challenging for examining a wide range of RBC antigens because of the considerable cost, time, and effort required to verify an individual’s RBC antigens using antisera…
Advancements and Opportunities in Genomic Analysis
PRESS RELEASE Published September 14, 2023 The DNA Sequencing Market size is estimated to grow from USD 8.6 Billion in 2022 to reach USD 9.9 Billion by 2030, growing at a CAGR of 14.6% during the forecast period from 2023 to 2030. The DNA sequencing market is undergoing significant expansion, primarily driven…
Sr Scientist-Bioinformatics, | Regeneron Careers
Associate Scientist-Bioinformatics (Tarrytown, NY) Regeneron Pharmaceuticals, Inc. is seeking an Associate Scientist-Bioinformatics (Tarrytown, NY) to implement and develop cutting-edge computational biology methods to probe the mechanism as well as explore for therapeutic avenues in multiple disease-related fields, including immune-oncology, neurological disorders…
Job Opportunity: Bioinformatics Scientist, Genentech, South San Francisco, CA | BRET Career Development ASPIRE Program
Posted by hagansa2 on Wednesday, September 13, 2023 in Job Opportunities . Genentech seeks a talented and highly motivated Bioinformatics Scientist to pursue reverse translational research projects in collaboration with our Molecular Oncology and Oncology Biomarker Development Departments. Recently, exciting developments at Genentech and elsewhere have uncovered new avenues for…
Gene Expression Market Poised for 8% CAGR Growth During Forecast Period 2022 to 2029
PRESS RELEASE Published September 13, 2023 In a recently released analysis titled “Gene Expression Market: Global Industry Trends, Share, Size, Growth, Opportunity and Forecast 2022-2029,” Exactitude Consultancy, a reputable market research firm, provided data. The report offers a thorough overview of the market, including data on market size, trends, and…
Illumina MISEQ SY-410-1003 – France
Listing description Illumina MISEQ SY-410-1003 Last maintenance October 2022 done by Illumina Price is negotiable Illumina’s MiSeq uses sequencing by synthesis (SBS) technology: cluster generation+ sequencing+ data analysis in a very short time. Key features: – Automation: Miseq includes a buffer bottle, flow cell and reagent cartridge, enabling both cluster…
Ann.vcf format
Ann.vcf format 0 Hello everyone! I used a pipeline named Sarek to run my WES data. The pipeline used two programs to annotate VEP and SnpEff and give to me an ann.vcf file. I don’t know how to use or open this file in excel for do the filters and…
Ploidy Estimator
The Ploidy Estimator runs by default. The Ploidy Estimator uses reads from the mapper/aligner to calculate the sequencing depth of coverage for each autosome and allosome in the human genome. The sex karyotype of the sample is then estimated using the ratios of the median sex chromosome coverages to the…
Wave hello: Scots marine pioneers find Blue Horizon under water
Wave energy pioneers Mocean Energy have secured over £3 million in EU funding to develop and deploy a 250kW wave machine in Orkney. The large-scale wave energy device – named Blue Horizon 250 – will be manufactured in Scotland and will be deployed in a grid-connected berth at the European…
GRCh37/38 reference genotype AF wrong ?
GRCh37/38 reference genotype AF wrong ? 1 Dear Colleagues, I am new to variant calling and started to analyse my VCF generated from WES bam files to isolate clinical relevant germline variations. The VCF was generated using GRCh38 as reference sequence. Now I stumpled over the fact that a hugh…
Problem while working with sequenza
Problem while working with sequenza – Chromosomes out of order 1 Hi, I’m trying to work with sequenza in order to calculate HRD score of a sample using WES data. When I run sequenza, I get a message saying that “chromosomes are out of order”, and I don’t know how…
WES CNV analysis
WES CNV analysis 0 Hi, I am new to CNV analysis and beginner in R language. I am trying to call germline CNVs using exome data using ExomeDepth. I only have the raw data with hg38 reference. If you have the ExomeDepth scripts to run on hg38 reference. Kindly share…
Error using sequenza-utils with WES
Hi! I’m trying to calculate the homologous recombination deficiency score of a cell line (MDA-MB-231) using whole exome sequencing data. To do this, I pretend to use the scarHRD package in R, but I first need a “*.seqz.gz” archive, which is made using sequenza-utils, but I have the following error…
Scientist/Sr. Scientist, Bioinformatics at Frontier Medicines
Frontier Medicines is seeking a highly motivated and experienced Scientist/Sr. 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,…
Polars vs. pandas: What’s the Difference?
If you’ve been keeping up with the advances in Python dataframes in the past year, you couldn’t help hearing about Polars, the powerful dataframe library designed for working with large datasets. Unlike other libraries for working with large datasets, such as Spark, Dask, and Ray, Polars is designed to be…
Bioinformatics Analyst III job with Frederick National Laboratory for Cancer Research
Bioinformatics Analyst III Job ID: req3697Employee Type: exempt full-timeDivision: Cancer Research Technology ProgramFacility: Rockville: Gaither RdLocation: 2099 Gaither Rd, Rockville, MD 20850 USA The Frederick National Laboratory is a Federally Funded Research and Development Center (FFRDC) sponsored by the National Cancer Institute (NCI) and operated by Leidos Biomedical Research, Inc….
Bioinformatics Scientist – II (Associate)
Innova Solutions is immediately hiring for a Bioinformatics Scientist – II Position type: Full time, Contract Job Title: Bioinformatics Scientist – II (Associate) Location: Cambridge or Boston Massachusetts Duration: 13+ months of contract Pay range: $72 to $77 per hour on W2 Job Description: The Data, AI & Genome Sciences…
Bioinformatics Scientist – with Growth Opportunities at Spectraforce Technologies Inc in Cambridge, MA
We are eager to add an ambitious Bioinformatics Scientist to join our incredible team at Spectraforce Technologies Inc in Cambridge, MA.Growing your career as a Full Time Bioinformatics Scientist is an amazing opportunity to develop useful skills.If you are strong in analysis, creativity and have the right enthusiasm for the…
SPECTRAFORCE hiring Bioinformatics Scientist in Cambridge, Massachusetts, United States
Title: Bioinformatics Scientist – IILocation: Either Boston or Cambridge MADuration: 12 Months Pay rate starts from $75/hr.Note: Work location is either Boston or Cambridge MA, however manager is based out in CA. Hybrid role(Requires to come 3 days/week onsite).Fixed 2 days: Either Monday and Thursday OR Tuesday and Wednesday. Friday’s…
Bioinformatics Analyst III Job in Maryland (MD), $vacancy_industry Career, Full Time Jobs in Frederick National Laboratory for Cancer Research
Bioinformatics Analyst III Job ID: req3697Employee Type: exempt full-timeDivision: Cancer Research Technology ProgramFacility: Rockville: Gaither RdLocation: 2099 Gaither Rd, Rockville, MD 20850 USA The Frederick National Laboratory is a Federally Funded Research and Development Center (FFRDC) sponsored by the National Cancer Institute (NCI) and operated by Leidos Biomedical Research,…
Bioinformatics Analyst I/II job with Frederick National Laboratory for Cancer Research
Bioinformatics Analyst I/II Job ID: req3664Employee Type: exempt full-timeDivision: Bioinformatics and Computational ScienceFacility: NIHLocation: NIH Campus 9000 Rockville Pike, Bethesda, MD 20892 USA The Frederick National Laboratory is a Federally Funded Research and Development Center (FFRDC) sponsored by the National Cancer Institute (NCI) and operated by Leidos Biomedical Research, Inc….