ASHG ASHG Report Highlights Functional, Economic Impact of Human Genetics and Genomics The report, published this week, details the impact of human genetics and genomics on human health, drug development, and the economy, among other things. Researchers Turn Methylated DNA Profiling Method Towards Prenatal Testing Applications Premium At the ASHG 2020 virtual meeting, researchers presented data showing they could use the method to enrich for placental DNA in maternal plasma samples. Epilepsy Exomes From Epi25 Project Lead to Mutation-Intolerant Gene Regions Premium Rare variants turned up across epilepsy cases but appeared to be more common in mutation-intolerant gene regions in individuals with the most severe epilepsy subtype. Qatar Genome Programme Team Begins Characterizing Transcriptome-Level Variation in Population Premium Genes in immune-related pathways were among those flagged when researchers used RNA sequencing on blood samples to look at functional genetic features in the population. Identity-by-Descent Analysis Uncovers Rare Variant Associations in UK Biobank Premium Data presented at the ASHG virtual meeting highlighted the population insights that can be gleaned from IDB profiles in populations, including loci linked to blood traits. 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 Oct 18, 2019 10x Genomics Describes Capabilities of Visium Spatial Genomics Product Ahead of Release Premium Oct 18, 2019 Selecting Human Embryos for Height, IQ Based on Polygenic Scores Won't Work Well, Study Suggests Oct 17, 2019 Variant Detection Gets Boost From Graph Genomes, De Novo Assemblies Premium Oct 16, 2019 Large-Scale Schizophrenia Exome Sequencing Study Identifies New Risk Genes Apr 12, 2019 ASHG Launches Program to Increase Diversity in Genetics Research Workforce Apr 4, 2019 ASHG Issues Research Recontact Guidelines in New Position Statement Oct 31, 2018 Genomic Screening Can ID Actionable Variants but Implementation Poses Challenges Premium Oct 22, 2018 ASHG: Dutch Nationwide NIPT Implementation Study Sees 42 Percent Uptake After First Year Oct 22, 2018 ASHG: High Polygenic Risk Score for Heart Disease Motivates Patients to Make Lifestyle Changes Oct 21, 2018 ASHG: RNA Sequencing Can Improve Diagnostic Yield of Exome, Genome Tests Oct 19, 2018 ASHG: Australian Newborn WES Project Combines Hearing Loss Dx With Optional Secondary Results Load More Breaking News Enzo Biochem, CLX Health Partner to Support COVID-19 Testing for International Travel Type 1 Diabetes GWAS, Fine-Mapping Leads to New Genetic Loci, Potential Drug Targets LSU Health Sciences Center Wins $2.4M to Lead SARS-CoV-2 Variant Sequencing Program NanoString Technologies, Parker Institute for Cancer Immunotherapy Partner on Cell Therapy Project BGI Americas Collaborating With Champions Oncology on Proteomic Cancer Research Personal Genome Diagnostics Inks Cancer Genomic Profiling Deal with Duke University Health System The Scan Missed Early Cases A retrospective analysis of blood samples suggests early SARS-CoV-2 infections may have been missed in the US, the New York Times reports. Limited Journal Editor Diversity A survey finds low diversity among scientific and medical journal editors, according to The Scientist. How Much of a Threat? Science writes that need for a provision aimed at shoring up genomic data security within a new US bill is being questioned. PNAS Papers on Historic Helicobacter Spread, Brain Development, C. difficile RNAs In PNAS this week: Helicobacter genetic diversity gives insight into human migrations, gene expression patterns of brain development, and more.