Tag: COSMIC

[Kernel-packages] [Bug 1786013] Autopkgtest regression report (linux-meta-kvm/5.19.0.1025.22)

All autopkgtests for the newly accepted linux-meta-kvm (5.19.0.1025.22) for kinetic have finished running. The following regressions have been reported in tests triggered by the package: backport-iwlwifi-dkms/9904-0ubuntu3.1 (amd64) digimend-dkms/10-5 (amd64) rtl8812au/4.3.8.12175.20140902+dfsg-0ubuntu17 (amd64) Please visit the excuses page listed below and investigate the failures, proceeding afterwards as per the StableReleaseUpdates policy regarding…

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Bitscopic hiring Senior Bioinformatics Pipeline Engineer in United States

We are seeking a remote full-time Bioinformatics Pipeline Engineer who has the skillset to construct and maintain scalable genomic analysis pipelines. Your role will not only be centered around development for pharmacogenomics, cancer, and infectious diseases biosurveillance. We value someone with the expertise to implement Python and shell scripting in…

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mutational signatures in different tumor samples

mutational signatures in different tumor samples 0 Dear all. I am currently researching the mutational signatures (or patterns?) in a large cohort of targeted sequencing of tumor samples. I found that the definition of “mutational signatures” in COSMIC is like this : “The profile of each signature is displayed using…

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Retrieving allele-specific information for a variant using VEP annotation

Hi all! I annotated a VCF file using VEP and noticed that it reports several variant IDs to each input variant. For example, this is an excerpt of one of the variant lines (I removed the annotation info that is not relevant to the question): 12 25398284 . C A…

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Things Phase 4 Did Perfectly

The one-two punch of Avengers: Infinity War and Avengers: Endgame firmly established the Marvel Cinematic Universe (MCU) as the biggest movie franchise in the world. What helped make the films among the biggest box-office hits ever is that they were the grand culmination of a decade’s worth of storytelling, as…

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Retrieving information from COSMIC database in an automated way

Retrieving information from COSMIC database in an automated way 0 Hi! I am performing variant calling and annotation of some cancer samples. For the moment, I am checking manually the variants with an entry in the COSMIC database and then going to the COSMIC database website to retrieve information associated…

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What Is Distributed Learning In Machine Learning?

Distributed learning has emerged as a crucial technique for tackling complex problems and harnessing the power of large-scale data processing. But what exactly is distributed learning in machine learning? Why is it so important? In this article, we will explore the concept of distributed learning and its significance in the…

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open-cravat: variant annotation tool

Tool:open-cravat: variant annotation tool 3 open-cravat is an open-source platform for rapidly developing, using, and disseminating variant annotation tools. It can handle unlimited number of variants in VCF format input files as well as its own input format and produce tab-separated text output files and excel spreadsheets. It is command-line-based…

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LOINC 81874-0 SLC12A3 gene full mutation analysis in Blood or Tissue by Sequencing

81247-9 Master HL7 genetic variant reporting panel  Indent81306-3 Variables that apply to the overall study  Indent Indent53577-3 Reason for study O 0..*  Indent Indent51967-8 Genetic disease assessed [ID] O 0..*  Indent Indent51963-7 Medication assessed [ID] C 0..*  Indent Indent48018-6 Gene studied [ID] C 0..*  Indent Indent36908-2 Gene mutations tested for in Blood or Tissue by…

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Every Time Futurama Made Us Cry

Part of what made Futurama so great is its ability to combine comedy and drama. One minute we’re laughing, and the next we’re grabbing for a box of tissues. This list will focus on the latter. With the show’s revival in the works, we’re looking at some of the saddest moments…

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Revvity hiring Senior Bioinformatics Scientist in Cambridge, England, United Kingdom

About The RoleWe have an exciting opportunity for an experienced bioinformatician who is interested in working at the forefront of the gene editing (CRISPR knock-out, base editing) and gene modulation (CRISPRa, CRISPRi, RNAi) fields. We are seeking a Cambridge-based Senior Bioinformatics Scientist 1 to join our global Bioinformatics team, which…

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Astronomers find ‘largest ever’ cosmic explosion by chance

Data suggests that the explosion is roughly 8bn light years away and nearly 100 times brighter than all the stars in our galaxy combined. A new investigation has revealed a cosmic explosion that is 10 times brighter than any known supernova (exploding star). The cosmic explosion – called AT2021lwx –…

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Clonal evolution during metastatic spread in high-risk neuroblastoma

Maris, J. M. Recent advances in neuroblastoma. N. Engl. J. Med. 362, 2202–2211 (2010). Article  CAS  PubMed  PubMed Central  Google Scholar  London, W. B. et al. Historical time to disease progression and progression-free survival in patients with recurrent/refractory neuroblastoma treated in the modern era on Children’s Oncology Group early-phase trials.Cancer…

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Phase 3 data for cabozantinib triplet in kidney cancer published in NEJM

Findings from the phase 3 COSMIC-313 trial, which showed that adding cabozantinib (Cabometyx) to nivolumab (Opdivo) and ipilimumab (Yervoy) in the first-line setting significantly improved progression-free survival (PFS) in patients with intermediate- or poor-risk renal cell cancer (RCC), have been published in the New England Journal of Medicine.1 “This is…

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State of Success: National Washington Day

Historical Background  The WSU College of Agricultural, Human and Natural Resource Sciences (CAHNRS) traces its origins to our Land-grant University’s founding. Only five months after attaining statehood, the Washington State Legislature established the Washington State Agricultural College, Experiment Station and School of Sciences on March 28, 1890. Instruction began in…

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[Kernel-packages] [Bug 1786013] Autopkgtest regression report (linux-meta-azure-fde-5.15/5.15.0.1038.45~20.04.1.17)

All autopkgtests for the newly accepted linux-meta-azure-fde-5.15 (5.15.0.1038.45~20.04.1.17) for focal have finished running. The following regressions have been reported in tests triggered by the package: dahdi-linux/1:2.11.1~dfsg-1ubuntu6.3 (amd64) nvidia-graphics-drivers-340/340.108-0ubuntu5.20.04.2 (amd64) Please visit the excuses page listed below and investigate the failures, proceeding afterwards as per the StableReleaseUpdates policy regarding autopkgtest regressions…

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Senior Bioinformatics Scientist @ Natera

We are seeking a bioinformatician with significant oncology or immunology experience to join a multidisciplinary team developing leading-edge genomics analysis tools to understand the immune system’s response to cancer. This highly motivated, detail-oriented individual would join a clinical genomics analysis group and will be responsible for developing and applying bioinformatics…

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New Products Posted to GenomeWeb: Roche, GeneDx

Roche Kapa HyperExome V2 Probes Roche has launched its Kapa HyperExome V2 Probes, a whole-exome sequencing panel that provides a key update to the company’s Kapa HyperCap Target Enrichment portfolio. The new panel covers recent versions of the ACMGv3.1, RefSeq, CCDS, ClinVar, Ensembl, and COSMIC genomic databases within a compact…

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Single duplex DNA sequencing with CODEC detects mutations with high sensitivity

Ethical approval, DNA samples and oligonucleotides All patients provided written informed consent to allow the collection of blood and/or tumor tissue and the analysis of clinical and genetic data for research purposes. The IRB of the Dana-Farber Cancer Institute and New York University Grossman School of Medicine approved these protocols….

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The genome-wide mutational consequences of DNA hypomethylation

Goldberg, A. D., Allis, C. D. & Bernstein, E. Epigenetics: A landscape takes shape. Cell 128, 635–638 (2007). Article  PubMed  Google Scholar  Mohn, F. & Schübeler, D. Genetics and epigenetics: Stability and plasticity during cellular differentiation. Trends Genet. 25, 129–136 (2009). Article  PubMed  Google Scholar  Takahashi, K. et al. Induction…

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Hubble Captures Rarely Explored Galaxy Cluster, Filled With Cosmic Curiosities

By ESA/Hubble April 23, 2023 This stunning image, captured by the Hubble Space Telescope, showcases the galaxy cluster ACO S520, located in the constellation Pictor. Alongside several large elliptical galaxies, the image reveals a ring-shaped galaxy and a pair of bright stars notable for their colorful crisscrossing diffraction spikes. The…

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Bioinformatics Engineer III at Thermo Fisher Scientific, Inc – Bengaluru

Job Description At Thermo Fisher, our mission is to cure cancer with genomic data. It is a close-knit, collaborative, cross-functional setting where we believe none of us is as smart as all of us and we each have something valuable to contribute toward our goal. The software services team is…

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Human hg38 chr10:21,513,475-21,525,682 UCSC Genome Browser v446

     Seq2science ChIP-seq hub ChIP-seqhidedensesquishpackfull    Mapping and Sequencing Base Positionhidedensefull p14 updated Fix Patcheshidedensesquishpackfull p14 updated Alt Haplotypeshidedensesquishpackfull Assemblyhidedensesquishpackfull Centromereshidedensesquishpackfull Chromosome Bandhidedensesquishpackfull Clone Endshidedensesquishpackfull Exome Probesetshidedensesquishpackfull FISH Cloneshidedensesquishpackfull Gaphidedensesquishpackfull GC Percenthidedensefull GRC Contigshidedensefull GRC Incidenthidedensesquishpackfull Hg19 Diffhidedensesquishpackfull INSDChidedensesquishpackfull LiftOver & ReMaphidedensesquishpackfull LRG Regionshidedensesquishpackfull Mappabilityhideshow Problematic Regionshidedensesquishpackfull new Recomb…

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Bioinformatics Engineer III Job For 0-50 Year Exp In Thermo Fisher Scientific Bengaluru / Bangalore – 13226969

Job Description Job Description : At Thermo Fisher, our mission is to cure cancer with genomic data. It is a close-knit, collaborative, cross-functional setting where we believe none of us is as smart as all of us and we each have something valuable to contribute toward our goal. The software…

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[Kernel-packages] [Bug 1786013] Autopkgtest regression report (linux-restricted-modules-intel-iotg/5.15.0-1028.33)

All autopkgtests for the newly accepted linux-restricted-modules-intel-iotg (5.15.0-1028.33) for jammy have finished running. The following regressions have been reported in tests triggered by the package: nvidia-graphics-drivers-390/390.157-0ubuntu0.22.04.1 (i386) Please visit the excuses page listed below and investigate the failures, proceeding afterwards as per the StableReleaseUpdates policy regarding autopkgtest regressions [1]. people.canonical.com/~ubuntu-archive/proposed-

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PerkinElmer Informatics hiring Senior Bioinformatics Scientist in Cambridge, England, United Kingdom

Responsibilities Location Cambridge, CambridgeshireGB Job ID JR-036129 About The PerkinElmer Life Sciences And Diagnostics Company The PerkinElmer Life Sciences and Diagnostics company – which is to be renamed during the second quarter of 2023 – provides end-to-end solutions that help scientists, researchers and clinicians better diagnose disease and discover new…

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Bioconductor – GenomicRanges (development version)

This is the development version of GenomicRanges; for the stable release version, see GenomicRanges. The ability to efficiently represent and manipulate genomic annotations and alignments is playing a central role when it comes to analyzing high-throughput sequencing data (a.k.a. NGS data). The GenomicRanges package defines general purpose containers for storing…

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The evolution of non-small cell lung cancer metastases in TRACERx

The TRACERx 421 cohort The TRACERx study (clinicaltrials.gov/ct2/show/NCT01888601) is a prospective observational cohort study that aims to transform our understanding of NSCLC, the design of which has been approved by an independent research ethics committee (13/LO/1546). Informed consent for entry into the TRACERx study was mandatory and obtained from every…

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The evolution of lung cancer and impact of subclonal selection in TRACERx

The TRACERx 421 cohort The TRACERx study (clinicaltrials.gov/ct2/show/NCT01888601) is a prospective observational cohort study that aims to transform our understanding of NSCLC, the design of which has been approved by an independent research ethics committee (13/LO/1546). Informed consent for entry into the TRACERx study was mandatory and obtained from every…

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fRNC: Uncovering the dynamic and condition-specific RBP-ncRNA circuits from multi-omics data

Comput Struct Biotechnol J. 2023; 21: 2276–2285. ,a,1 ,a,1 ,a ,b,c and a,b,⁎ Leiming Jiang aComputational Systems Biology Laboratory, Department of Bioinformatics, Shantou University Medical College (SUMC), 515041 Shantou, China Shijia Hao aComputational Systems Biology Laboratory, Department of Bioinformatics, Shantou University Medical College (SUMC), 515041 Shantou, China Lirui Lin aComputational…

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Premas Life Sciences Pvt Ltd. hiring Dedicated Bioinformatics Specialist in New Delhi, Delhi, India

Position Summary: As a Bioinformatics Specialist you will be responsible for providing solutions to the customer for overcoming the technical difficulties encountered in the analysis pipeline. It is expected of you to have good analytical thinking to understand the error and provide solution and possible explanations for the same. As…

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QIIME is caching your current deployment…..Illegal instruction (core dumped) – Technical Support

Cosmic (Cosmic) April 5, 2023, 10:43am 1 Hello All – new user here trying to install Qiime2 on a native installation of Linux using Linux Mint.Anaconda3 installed with Conda updated to 23.1.1 and instructions followed for Qiime2 installation: wget data.qiime2.org/distro/core/qiime2-2023.2-py38-linux-conda.yml conda env create -n qiime2-2023.2 –file qiime2-2023.2-py38-linux-conda.yml rm qiime2-2023.2-py38-linux-conda.yml conda…

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Deep genomic characterization highlights complexities and prognostic markers of pediatric acute myeloid leukemia

FG spectrum in pediatric AML patients A combinatorial approach, including conventional and next-generation sequencing (NGS)-based assays, was employed to profile the FG landscape (see Methods). FG analysis was feasible for 138 patients (94% of the entire cohort, Supplementary Data 1) from whom suitable testing materials were available. The most common FGs…

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Passing strings for password, email authentication and download link

Passing strings for password, email authentication and download link 0 Hi I am downloading the data from a website which requires authentication of email_id and password before the download. They then provide the download link which is used to download dataset. This download link is different everytime ### Download Cosmic…

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this is all that has been presented

If you blink, you miss it. This is the pace at which developments in the field of artificial intelligence have been moving for some time. Until ‘nothing’ ago, you could expect developments in this field at a rate of every many months. From 2021/2022, it became “every few weeks”. But…

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[Kernel-packages] [Bug 1786013] Autopkgtest regression report (linux-meta-intel-iotg/5.15.0.1027.26)

All autopkgtests for the newly accepted linux-meta-intel-iotg (5.15.0.1027.26) for jammy have finished running. The following regressions have been reported in tests triggered by the package: lttng-modules/2.13.1-1ubuntu0.22.04.3 (amd64) linux-intel-iotg/5.15.0-1027.32 (amd64) Please visit the excuses page listed below and investigate the failures, proceeding afterwards as per the StableReleaseUpdates policy regarding autopkgtest regressions…

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Expert Charts the Changing Treatment Landscape in CRPC

Matthew Dallos, MD, established therapies that are beginning to move into earlier lines of treatment, emerging antibody-drug conjugates (ADCs), and the potential of third generation anti-androgen agents in advanced castration-resistant prostate cancer (CRPC) in a presentation during the 16th Annual Interdisciplinary Prostate Cancer Congress® and Other Genitourinary Malignancies, hosted by…

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Urothelial Carcinoma Pipeline Assets and Comparative Analysis of Clinical and Non-Clinical Stage Products

PRESS RELEASE Published March 13, 2023 DelveInsight’s, “Urothelial Carcinoma Pipeline Insight, 2023,” report provides comprehensive insights about 40+ companies and 50+ pipeline drugs in the Urothelial Carcinoma pipeline landscape. It covers the Urothelial Carcinoma pipeline drug profiles, including Urothelial Carcinoma clinical trials and nonclinical stage products. It also covers the…

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Postdoc in bioinformatics at Karolinska Institutet

Do you want to contribute to top quality medical research? The research group of Professor Johan Hartman at the Oncology-Pathology department performs clinical and translational studies for breast cancer, with a special focus on precision medicine. The aim is to predict better individual patients’ unique drug sensitivity, as well as to…

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ncRNA | Free Full-Text | Insights into Online microRNA Bioinformatics Tools

2. MicroRNA Biogenesis and Targeting MiRNAs are small non-coding single-stranded RNAs encoded within non-coding sequences of the genome; however, a minority of miRNAs are known to also be encoded within exons [3]. Interestingly, miRNAs located within intronic regions of protein-coding genes can be transcribed from the same promoter as a…

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Exelixis (EXEL) Provides Update on Phase 3 CONTACT-03 Trial Evaluating Cabozantinib in Combination with Atezolizumab

Get inside Wall Street with StreetInsider Premium. Claim your 1-week free trial here. Exelixis, Inc. (Nasdaq: EXEL) today announced that the phase 3 CONTACT-03 study did not meet its primary endpoint of progression-free survival (PFS). CONTACT-03 evaluated cabozantinib (CABOMETYX®) in combination with atezolizumab versus cabozantinib alone in patients with locally…

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TekWisen Software Pvt. Ltd Bioinformatics Data engineer

Job Title: Computational Bioinformatics Data Engineer Location: Whippany, NJ, 07981-1406 Duration: 6 Months Payrate: $64 – $104/Hourly/W2 Job Type: Contract Work Type: Remote Job Description: The primary responsibility of the Computational Bioinformatics Data Engineer is to work independently and assume responsibility for designing IT infrastructure and development of a framework…

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how to Automate the Retrieval of Variant-related Information from Pubmed, dbSNP, ClinVar, HGMD etc

Dear Biostar leaders, I have started to work on a new Variant Re-Classification project in my lab, and I am wondering how others implement this and it would be great if you could share/advice on best approaches being practiced. After sanger confirmation of WES variants, we classify variants based on…

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how to seperate VEP INFO column into seperate columns

I have a vcf files like below: #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT treatmentSample chr1 857100 . C T 1756.06 PASS AC=2;AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.27;SOR=1.812;CSQ=chr1:857100|T|SNV|ENSG00000228794|ENST00000445118|LINC01128||1|MODIFIER|non_coding_transcript_exon_variant||||5/5|||||||||||||||||| GT:AD:DP:GQ:PL 1/1:0,60:60:99:1770,180,0 Does anyone know how to seperate INFO columns into different columns? And also how to separate treatmentSample column following the FORMAT ORDER? I…

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[Kernel-packages] [Bug 1786013] Autopkgtest regression report (linux-meta-lowlatency-hwe-5.15/5.15.0.66.73~20.04.24)

All autopkgtests for the newly accepted linux-meta-lowlatency-hwe-5.15 (5.15.0.66.73~20.04.24) for focal have finished running. The following regressions have been reported in tests triggered by the package: linux-lowlatency-hwe-5.15/5.15.0-66.73~20.04.1 (arm64) dpdk/19.11.13-0ubuntu0.20.04.1 (amd64) Please visit the excuses page listed below and investigate the failures, proceeding afterwards as per the StableReleaseUpdates policy regarding autopkgtest regressions…

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Exelixis (EXEL) and Bristol Myers Squibb (BMY) Reports Strong Results from Phase 3 CheckMate-9ER Trial

Get inside Wall Street with StreetInsider Premium. Claim your 1-week free trial here. Bristol Myers Squibb (NYSE: BMY) and Exelixis, Inc. (NASDAQ: EXEL) today announced three-year (36.5 months minimum; 44.0 months median) follow-up results from the Phase 3 CheckMate -9ER trial, demonstrating sustained survival and response rate benefits with the…

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Hobby-Eberly Telescope Reveals Galaxy Gold Mine in First Large Survey

AUSTIN, Texas — Astronomers have barely scratched the surface of mapping the nearly endless stars and galaxies of the heavens. Using supercomputers, researchers with The University of Texas at Austin have now revealed the locations of more than 200,000 new astronomical objects. Their goal is to map even more and…

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Polygenic architecture of rare coding variation across 394,783 exomes

Sun, B. B. et al. Genetic associations of protein-coding variants in human disease. Nature 603, 95–102 (2022). ADS  CAS  Google Scholar  Wang, Q. et al. Rare variant contribution to human disease in 281,104 UK Biobank exomes. Nature 597, 527–532 (2021). ADS  CAS  Google Scholar  Backman, J. D. et al. Exome…

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Park Discusses Results of Multiple Phase 3 Trials in ccRCC

During a Targeted Oncology case-based roundtable discussion, Chandler Park, MD, discussed the trials that led to the approval of frontline combination regimens for patients with advanced clear cell renal cell carcinoma. Targeted OncologyTM: What first-line systemic therapies do the National Comprehensive Cancer Network guidelines recommend for patients with relapsed or…

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Statistical Bioinformatics Analyst – Judge Group, Inc. – Hanover, NJ

Location: Hanover, NJ Salary: $60.00 USD Hourly – $75.00 USD Hourly Description: Our client is currently seeking a Statistical Bioinformatics Analyst**only W2- Fully remote role JOB DESCRIPTION- The primary responsibility of the Statistical Bioinformatics Analyst is to work independently and assume responsibility for data processing, annotation, and statistical analysis for…

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Which AF column do I use from TCGA data in maftools

Which AF column do I use from TCGA data in maftools 0 Currently trying to read a maf file from the TCGA and need to change the headers in order to run it but not sure what column in the TCGA file corresponds to the ‘i_TumorVAF_WU’ header I need. Below…

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Bioinformatics Research Scientist Job in Pennsylvania

UPCI Basic Research Administration – Pennsylvania-Pittsburgh – (23000703) A Bioinformatics Research Scientist position is available in the laboratory of Dr. Yu-Chiao Chiu at the UPMC Hillman Cancer Center at the University of Pittsburgh School of Medicine. We are seeking a highly motivated candidate with strong computational skills in…

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Seven technologies to watch in 2023

From protein sequencing to electron microscopy, and from archaeology to astronomy, here are seven technologies that are likely to shake up science in the year ahead. Single-molecule protein sequencing The proteome represents the complete set of proteins made by a cell or organism, and can be deeply informative about health…

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Human hg38 chr19:11,216,461-11,670,150 UCSC Genome Browser v442

     Custom Tracks 1806hidedensefull 468hidedensefull BT20hidedensefull BT474hidedensefull MCF7hidedensefull T47Dhidedensefull    Mapping and Sequencing Base Positionhidedensefull p13 Fix Patcheshidedensesquishpackfull p13 Alt Haplotypeshidedensesquishpackfull Assemblyhidedensesquishpackfull Centromereshidedensesquishpackfull Chromosome Bandhidedensesquishpackfull Clone Endshidedensesquishpackfull Exome Probesetshidedensesquishpackfull FISH Cloneshidedensesquishpackfull Gaphidedensesquishpackfull GC Percenthidedensefull GRC Contigshidedensefull GRC Incidenthidedensesquishpackfull Hg19 Diffhidedensesquishpackfull INSDChidedensesquishpackfull LiftOver & ReMaphidedensesquishpackfull LRG Regionshidedensesquishpackfull Mappabilityhideshow RefSeq Acchidedensesquishpackfull…

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The Astronomy community and the EuroScienceGateway project

Astronomy community will be one of the domain use cases of EuroScienceGateway project WP5. There is a large potential for improvement for harmonization of rich and diverse open science practices in Astronomy with similar activities in other domains, such as BioInformatics, material science, and others. EPFL and UPC partners will…

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Human hg38 chr7:73,678,750-73,740,129 UCSC Genome Browser v435

Use drop-down controls below and press refresh to alter tracks displayed.Tracks with lots of items will automatically be displayed in more compact modes.    Custom Tracks H3K27ac Meta NeuN SCZhidedensesquishpackfull H3K27ac NeuN SCZ del_CRDhidedensesquishpackfull H3K27ac NeuN SCZ del_CRD_del_peakshidedensesquishpackfull H3K27ac Tissuehidedensesquishpackfull H3K27ac Tissue BDhidedensesquishpackfull H3K27ac Tissue BD del_CRDhidedensesquishpackfull H3K27ac Tissue BD…

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The Pitfalls of Evolutionary Genomics

Recent research analyzes mathematical models created to deduce conclusions about how evolution works at the level of populations of organisms. A study examines the benefits and drawbacks of evolutionary genomics. Claudius Ptolemy, an astronomer and mathematician from Alexandria in the second century, had a lofty goal. He wrote the Almagest, a…

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Hubble captures a galactic menagerie

Credit: ESA/Hubble & NASA, H. Ebeling; Acknowledgment: L. Shatz The NASA/ESA Hubble Space Telescope captured this massive galaxy cluster, called Abell 1351, with its Wide Field Camera 3 and Advanced Camera for Surveys. Abell 1351 lies in the constellation Ursa Major in the northern hemisphere. This image is filled with…

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Genetic and chemotherapeutic influences on germline hypermutation

DNM filtering in 100,000 Genomes Project We analysed DNMs called in 13,949 parent–offspring trios from 12,609 families from the rare disease programme of the 100,000 Genomes Project. The rare disease cohort includes individuals with a wide array of diseases, including neurodevelopmental disorders, cardiovascular disorders, renal and urinary tract disorders, ophthalmological…

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Mining Curated Databases for Literature in VSClinical

Curated databases are a real-time saver when compiling published evidence to support your variant evaluations and classifications. Leveraging the curated databases at your fingertips in our VSClinical variant interpretation hub is even more efficient. Not only does VSClinical provides users with automated variant classification for germline variants according to the…

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Bioinformatics Data Engineer in Boston, MA for Dana-Farber Cancer Institute

Details Posted: 27-Apr-22 Location: Boston, Massachusetts Salary: Open Categories: Staff/Administrative Internal Number: 2022-26005 Located in Boston and the surrounding communities, Dana-Farber Cancer Institute (DFCI) brings together world renowned clinicians, innovative researchers and dedicated professionals, allies in the common mission of conquering cancer, HIV/AIDS and related diseases. Combining extremely talented people…

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VCV001049045.1 – ClinVar – NCBI

The TBP p.Gln87_Gln95del variant was not identified in the literature nor was it identified in dbSNP, ClinVar, Cosmic or LOVD 3.0. The variant was also not identified in the following control databases: the 1000 Genomes Project, the NHLBI GO Exome Sequencing Project, the Exome Aggregation Consortium (August 8th 2016), or…

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Genetic characteristics involving the PD-1/PD-L1/L2 and CD73/A2aR axes and the immunosuppressive microenvironment in DLBCL

Key messages What is already known on this topic Targeting immunosuppressive pathways have emerged as promising strategies for cancer treatment. The genetic characteristics of PD-1/PD-L1/L2 (programmed cell death protein 1/programmed cell death ligand 1/ligand 2) and CD73/A2aR (A2a adenosine receptor) and the effect of these two signalings on dysfunctional CD8+…

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[Kernel-packages] [Bug 1786013] Autopkgtest regression report (linux-meta-hwe-5.13/5.13.0.32.35~20.04.18)

All autopkgtests for the newly accepted linux-meta-hwe-5.13 (5.13.0.32.35~20.04.18) for focal have finished running. The following regressions have been reported in tests triggered by the package: nvidia-graphics-drivers-340/340.108-0ubuntu5.20.04.2 (amd64) systemd/245.4-4ubuntu3.15 (ppc64el, s390x, amd64) Please visit the excuses page listed below and investigate the failures, proceeding afterwards as per the StableReleaseUpdates policy regarding…

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Associate Director, Bioinformatics Job Opening in Wilmington, DE at Incyte Corporation

Incyte is a biopharmaceutical company focused on the discovery, development, and commercialization of novel medicines to meet serious unmet medical needs in oncology and inflammation and autoimmunity. Incyte is committed to the rigorous pursuit of research and development excellence to improve the lives of patients, make a difference in health…

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The $11-billion Webb telescope aims to probe the early Universe

Lisa Dang wasn’t even born when astronomers started planning the most ambitious and complex space observatory ever built. Now, three decades later, NASA’s James Webb Space Telescope (JWST) is finally about to launch, and Dang has scored some of its first observing time — in a research area that didn’t…

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[Kernel-packages] [Bug 1786013] Autopkgtest regression report (linux-meta-gke-5.4/5.4.0.1057.60~18.04.22)

All autopkgtests for the newly accepted linux-meta-gke-5.4 (5.4.0.1057.60~18.04.22) for bionic have finished running. The following regressions have been reported in tests triggered by the package: kpatch/0.5.0-0ubuntu1.1 (amd64) lxc/3.0.3-0ubuntu1~18.04.1 (amd64) Please visit the excuses page listed below and investigate the failures, proceeding afterwards as per the StableReleaseUpdates policy regarding autopkgtest regressions…

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Single-cell DNA and RNA sequencing reveals the dynamics of intra-tumor heterogeneity in a colorectal cancer model | BMC Biology

Organoid culture of small intestinal cells and lentiviral transduction C57BL/6J mice and BALB/cAnu/nu immune-deficient nude mice were purchased from CLEA Japan (Tokyo, Japan). The small intestine was harvested from wild-type male C57BL/6J mice at 3–5 weeks of age (Additional file 1: Figure S9A). Crypts were purified and dissociated into single cells,…

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Dissemination of Mycobacterium abscessus via global transmission networks

Dataset construction, cluster identification and definition of DCCs Whole genome sequencing of two collections of isolates from Manchester, UK, and the Netherlands was carried out as previously described2. Briefly, DNA was extracted from colony sweeps of subcultured samples before to paired-end sequencing using the Illumina HiSeq platform. These samples were…

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Genes in Space: Students’ experiments could help humans travel in deep space

Students Aarthi Vijayakumar, Rebecca Li, Michelle Sung and David Li won the competition in 2018, and their project became the Genes in Space-6 experiment. The student team’s investigation made history. For the first time in space, NASA astronauts successfully edited DNA using CRISPR/Cas9 technology while working on the Genes in…

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GitHub – HaoWuLab-Bioinformatics/wu-group: ECSWalk

GitHub – HaoWuLab-Bioinformatics/wu-group: ECSWalk Files Permalink Failed to load latest commit information. Type Name Latest commit message Commit time ECSWalk: A carcinogenic driver module detection method based on a network model. Data used in this study: In our research, we used data processed by Rafsan Ahmed, et al. and Mark…

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Oncogene Concatenated Enriched Amplicon Nanopore Sequencing for rapid, accurate, and affordable somatic mutation detection | Genome Biology

Stochastic Amplicon Ligation. DNA samples for oncology sequencing are typically extracted from FFPE tissues and can have average lengths of less than 500 nt due to accumulated chemical damage [18]. We developed the Stochastic Amplicon Ligation (SAL) method to enzymatically concatenate many short DNA molecules together to utilize the long-read…

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Defects in 8-oxo-guanine repair pathway cause high frequency of C > A substitutions in neuroblastoma

Significance The collection of large amounts of whole-genome sequencing data allowed for identification of mutational signatures, which are characteristic combinations of substitutions in the context of neighboring bases. The clinical significance of these mutational signatures is still largely unknown. In neuroblastoma, we showed that high levels of cytosine > adenine…

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Predicting and characterizing a cancer dependency map of tumors with deep learning

INTRODUCTION The development of novel cancer therapies requires knowledge of specific biological pathways to target individual tumors and eradicate cancer cells. Toward this goal, the landscape of genetic vulnerabilities of cancer, or the cancer dependency map, is being systematically profiled. Using RNA interference (RNAi) loss-of-function screens, Marcotte et al. (1),…

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Gritstone bio hiring Scientist, bioinformatics in Cambridge, Massachusetts, United States

Gritstone bio is a public, next-generation immuno-oncology and infectious disease focused company. The company is leveraging its antigen discovery machine learning platform EDGETM to define targets for personalized and shared immuno-oncology therapies, as well as for developing vaccines for infectious diseases such as COVID-19. Gritstone bio is seeking a Bioinformatics…

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