loss of function Germline Loss-of-Function Variants in ATM Gene May Contribute to Melanoma Predisposition Individuals with melanoma were more likely than controls to harbor loss-of-function variants or VUS, according to a newly published study. Obsessive Compulsive Disorder Exome Analysis Uncovers Contributions From Rare Coding Variants Exome sequence data from more than 1,300 OCD cases and almost 11,600 controls also revealed a higher load of damaging de novo mutations in male probands. CRISPR Screen Identifies Host Genes Needed for SARS-CoV-2 Infection, Potential Drug Targets The screen homed in on a number of genes involved in cholesterol biosynthesis that, when lost, make cells more resistant to infection. UK Biobank Exomes Reveal Loss-of-Function Variants, Potential Disease Ties More than 198,000 LOF variants turned up in exome sequences from 49,960 UK Biobank participants, including variants with potential ties to human traits. Mutations in Type I Interferon Immunity Genes Underlie Severe COVID-19 A portion of patients with life-threatening COVID-19 pneumonia had inborn errors of TLR3- and IRF7-dependent type I IFN immunity. Aug 13, 2020 Stillborn Birth Contributors Uncovered Using Exome Sequencing May 27, 2020 GnomAD Consortium Details Range of Human Genetic Variation From Large Dataset Mar 28, 2019 Schizophrenia Genes Prioritized in Zebrafish Mutant Study Feb 14, 2019 Hair Shaft Formation Gene Associated With Alopecia in Women of African Ancestry Apr 24, 2018 Loss-of-Function, Truncating Variants in UK Biobank Data Point to New Drug Targets Jan 29, 2018 Rutgers Statistical Method Assesses LOH in Tumor Suppressor Genes, Supplements Sequencing Panels Premium Nov 15, 2017 Rare Mutation Found Among Amish Population Protects Against Some Effects of Aging Oct 5, 2017 Broad Researchers Developing Pooled Genomic Perturbation Screening Method Using CRISPR Premium Sep 27, 2017 CRISPR-Cas9 Screen Points to Potential Vulnerabilities in KRAS-Mutated Colorectal Cancer Jun 29, 2017 Rare Gut Condition Linked to Single Gene Mutations, Hyperactivation of Complement System Jun 26, 2017 Schizophrenia Meta-Analysis Reveals Role for Rare, Damaging Variants May 19, 2016 Coronary Artery Disease Risk, Non-HDL Cholesterol Lower in Europeans with Rare ASGR1 Mutations Mar 3, 2016 Researchers See Modest Effects in Individuals With Rare Gene Knockouts Mar 3, 2016 Teams Describe Mutations Tied to Lower Triglyceride Levels, Reduced Coronary Artery Disease Risk Sep 3, 2015 Exome Sequencing Uncovers Monogenic Condition Marked By Speech Problems, Intellectual Delay Jun 27, 2012 UF to Genotype All Comers at Cath Lab to Personalize Treatment with Plavix, Eventually Other Drugs Premium Sep 2, 2010 New Data on CYP2C19 Loss-of-Function Alleles Questions Impact of Plavix PGx Testing Premium Breaking News GenomeWeb Index Falls 6 Percent in November as Emergence of Omicron Spooks Markets Sequencing-Based MRD Detection in Bone Marrow May Predict ALL Relapse After CAR T-Cell Therapy Metabolomic Study Links 13 Metabolites to Coronary Heart Disease Risk Among African Americans Illumina Wins $8M Jury Verdict in BGI Patent Infringement Suit, Loses Patent Caris Life Sciences Facing FTC Lawsuit After Resisting Subpoena in Illumina, Grail Antitrust Case Biodesix, Spesana Partner to Improve Workflows for Lung Cancer Molecular Diagnostic Tests The Scan Panel Votes for COVID-19 Pill A US Food and Drug Administration panel has voted to support the emergency use authorization of an antiviral pill for COVID-19 from Merck and Ridgeback Biotherapeutics, CNN says. But Not Harm New Scientist reports that UK bioethicists say that though gene editing may improve food production, it should not harm livestock welfare. Effectiveness Drop Anticipated Moderna's Stéphane Bancel predicts that that current SARS-CoV-2 vaccines may be less effective against the Omicron variant, the Financial Times reports. Cell Studies of Human Chromatin Accessibility, SARS-CoV-2 Variants, Cell Signaling Networks In Cell this week: chromatin accessibility maps of adult human tissues, modeling to track SARS-CoV-2 variants of concern, and more.