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 Resolve Biosciences, Zeiss Partner to Enhance Spatial Biology Imaging Tech EliTechGroup Obtains CE Mark for Saliva Use With SARS-CoV-2 Test Waters Q2 Revenues Up 31 Percent FDA Grants EUAs for SARS-CoV-2 Tests From Thermo Fisher, Phase Scientific Myriad Genetics More Than Doubles Quarterly Revenues Pacific Biosciences Acquires Sample Preparation Firm Circulomics The Scan And Back The New York Times reports that missing SARS-CoV-2 genome sequences are back in a different database. Lacks Family Hires Attorney A lawyer for the family of Henrietta Lacks plans to seek compensation from pharmaceutical companies that have used her cancer cells in product development, the Baltimore Sun reports. For the Unknown The Associated Press reports that family members are calling on the US military to use new DNA analysis techniques to identify unknown sailors and Marines who were on the USS Arizona. PLOS Papers on Congenital Heart Disease, COVID-19 Infection Host MicroRNAs, Multiple Malformation Mutations In PLOS this week: new genes linked to congenital heart disease, microRNAs with altered expression in COVID-19, and more.