ASHG UK Biobank WGS Consortium Describes 150K Genome Dataset at ASHG, Sets Sights on 500K Premium Researchers described the variant, disease, drug target, and drug safety insights being gained analyzing more than 150,000 UK Biobank whole-genome sequences. Single-Cell Tumor Classifier Algorithm Unveiled at ASHG, Provides Tissue of Origin The algorithm, which analyzes single-cell gene expression data, is better equipped to deal with interpatient heterogeneity in cancer cells than other methods. SUPER Psychosis Study Presented at ASHG Digs Into Relationships of Rare Variants, Phenotypes Using sequence data for tens of thousands of psychotic disease cases and controls, researchers have begun unearthing specific phenotypes linked to rare variants. MultiMuTHER Team Tracks Expression, Metabolite Relationships in Aging TwinsUK Participants Researchers are identifying stable and shifting gene expression and metabolite associations in blood samples collected from hundreds of female participants over nine years. Single-Cell Technology Companies Tout Million-Cell Capabilities at ASHG Premium Researchers from Parse Biosciences and 10x Genomics and their collaborators discussed the ability of their platforms to process up to 1 million cells simultaneously. Oct 21, 2021 UK Biobank Study Investigates Incomplete Penetrance of Mendelian Disease Variants Oct 21, 2021 Germline Cancer Risk Genes May Hold Rhabdomyosarcoma Survival Clues, Study Suggests Oct 20, 2021 Rady Children's Team Presents Genomic Medicine Management Tool at ASHG Oct 20, 2021 New Rare Disease Risk Loci Uncovered With 23andMe Participant Data Oct 20, 2021 Genomic Studies Presented at ASHG Explore Malaria Responses in West African Children Oct 19, 2021 De Novo Mutations Linked to Male Infertility in Trio Exome Sequencing Study May 21, 2021 ASHG Report Highlights Functional, Economic Impact of Human Genetics and Genomics Nov 2, 2020 Researchers Turn Methylated DNA Profiling Method Towards Prenatal Testing Applications Premium Nov 2, 2020 Epilepsy Exomes From Epi25 Project Lead to Mutation-Intolerant Gene Regions Premium Nov 2, 2020 Qatar Genome Programme Team Begins Characterizing Transcriptome-Level Variation in Population Premium Oct 30, 2020 Identity-by-Descent Analysis Uncovers Rare Variant Associations in UK Biobank Premium Oct 30, 2020 ESHG, ACMG Differ Starkly in Recommendations for Reporting Secondary Findings From Genomic Tests Premium Oct 29, 2020 Transcriptomics Data Suggest Existing Drugs Could Inhibit SARS-CoV-2 Premium Oct 29, 2020 Dozens of Introduction Events Sparked SARS-CoV-2 Spread in Oregon, Sequence Data Suggests Premium Oct 29, 2020 De Novo, Inherited Autism Risk Factors Uncovered With SPARK Cohort Analysis Premium Oct 29, 2020 COVID-19 Human Genetic Studies Presented at ASHG Point to Disease Susceptibility, Severity Loci Oct 28, 2020 Illumina's ExpansionHunter Software Shows Clinical Promise for STR Expansions Premium Oct 28, 2020 Finnish Population Genomics Study Uncovers Rare, Recessive Disease Candidates Premium Oct 28, 2020 'Genotype-First' Study Leads to Blood Cell Mutations Underlying Severe Autoinflammatory Disease Premium Oct 27, 2020 SickKids' 'Rigorous' Molecular Analysis IDs Targetable Alterations, Cancer Susceptibility Mutations Premium Load More Breaking News Dilated Cardiomyopathy Gene Mutations Point to Possible Therapeutic Strategy Ginkgo Bioworks Acquires Massachusetts COVID-19 Testing Firm Mainz Biomed Taps DCN Dx to Aid European Study of Enhanced ColoAlert Assay Parse Biosciences Partners With Research Instruments for Southeast Asia Distribution Thermo Fisher, Oncocyte Ink Development, Comarketing Deal for Cancer IVDs Yourgene Health Enters Three-Year £5M Term Loan Facility The Scan And a Fourth? A fourth dose of the Pfizer-BioNTech SARS-CoV-2 vaccine in an Israeli study increased antibody levels but did not prevent Omicron variant infections, according to the Financial Times. For Better Science Software A virtual institute funded by former Google CEO Eric Schmidt's philanthropy aims to lure software engineers to academia, Science reports. Recommendation Explanations The New York Times writes that the US Centers for Disease Control and Prevention is straining to both make and explain decisions based on limited information. Genome Research Papers on De Novo Mutation Rates, Polyploid Genotyping, Oncogene Epigenomic Translocation In Genome Research this week: de novo mutations rates in hemoglobin subunits, analysis of variant calling methods for polyploid plants, and more.