Brigham and Women's Hospital Complex Trait-Related CNVs Unearthed Using Haplotype-Informed Approach Researchers tracked down 269 associations between complex traits and copy number variants uncovered with the help of haplotype-informed copy number variation analyses. CardioVar Consortium Wins $8.2M From NHLBI to Map Heart Disease Variants, Functional Effects The investigators hope to eventually create a decision support resource with utility for physicians evaluating genetic test results in heart disease patients. Sudden Cardiac Death Risk Informed by Genome-Wide Polygenic Score for Heart Disease In individuals with a history of coronary artery disease (CAD), a polygenic risk score for CAD showed promise for predicting the risk of sudden and/or arrhythmic death. Single-Cell Transcriptomics Study Highlights Heart Failure Features Specific to Genotype Researchers used single-nucleus RNA-seq to see heart failure-related shifts in cell populations and gene expression, including those coinciding with specific pathogenic variants. Deep Learning Method Helps ID Cancer Drivers Based on Somatic Mutation Rates, Positive Selection Using a computational method called Dig, researchers traced mutation rates in 37 cancer types, focusing on suspected driver mutations under positive selection across the genome. Jun 14, 2022 TruDiagnostic, Brigham and Women's Collaborate on Multiomic Signature of Aging May 31, 2022 Penetrance of Mendelian Disease Variants Ranges in Heterozygous Carriers Apr 29, 2022 Neogen, Foxo Technologies Collaborate on Epigenetic Study of Human Health Apr 20, 2022 Advanced Alzheimer's Disease Linked to Somatic Mutation Rise in Neuronal Cells Apr 18, 2022 Clinical Polygenic Risk Assay, Reporting Pipeline Shows Promise for Multiple Conditions Premium Mar 7, 2022 Epigenetic Biomarkers May Help Assess Preterm Birth Risk Premium Feb 22, 2022 Bio-Techne, Thermo Fisher Scientific to Further Develop, Commercialize Kidney Transplant Rejection Assay Jan 5, 2022 Maternal Cell-Free RNA Can Gauge Preeclampsia Risk Months Before Symptoms, Study Finds Nov 8, 2021 Genomic Results Return Study Underscores Clinical Value, Takeaways for Expanded Implementation Oct 21, 2021 UK Biobank Study Investigates Incomplete Penetrance of Mendelian Disease Variants Sep 30, 2021 Multi-Ancestry GWAS Leads to Loci Linked to Hundreds of Human Phenotypes Sep 24, 2021 At NSGC, Genetic Counselors Address Race-Based Medicine, Ways to Change May 6, 2021 Parkinson's Disease Progression Linked to Five Variants in Genome-Wide Survival Study Mar 30, 2021 Renal Cell Carcinoma Risk Gene Representation Can Vary With Ancestry Mar 15, 2021 Dana Farber Team Applies PCR Method to ID Microsatellite Instability in Tumor-Derived Samples Premium Feb 8, 2021 Disease-Linked Mutations May Affect Protein-Protein Interactions, Influence Drug Response Nov 6, 2020 Genetic Risk of Cognitive Decline Varies Between Latino Populations, Study Finds Oct 16, 2020 Disparity in Microsatellite Instability Testing Suggests Need to Close Socioeconomic Access Gaps Premium Jun 30, 2020 Fluxergy, Mass General Brigham Partner to Evaluate Rapid COVID-19 Molecular Testing System Jun 23, 2020 Tissue Network Analysis Points to Significant Sex-Related Regulatory Differences Load More Breaking News Simple HealthKit Raises $8M in Series A Round Top Five Articles on GenomeWeb Last Week: Quantum-Si Layoffs, UBS Coverage Initiations, More LumiraDx Secures FDA Emergency Use Authorization, UK Approval for COVID-19, Flu Test Rarity Bioscience Raises Additional €500,000 Cancer Prognoses Informed by Module-Based Approach, Study Finds The Scan UK Team Presents Genetic, Epigenetic Sequencing Method Using enzymatic DNA preparation steps, researchers in Nature Biotechnology develop a strategy for sequencing DNA, along with 5-methylcytosine and 5-hydroxymethylcytosine, on existing sequencers. DNA Biobank Developed for French Kidney Donors, Recipients The KiT-GENIE biobank described in the European Journal of Human Genetics contains DNA samples, genotyping profiles, immune patterns, and clinical features for thousands of kidney donors or transplant recipients in Nantes, France. Cardiometabolic Disease May Have Distinct Associations With Microbial Metabolites in Blood, Gut By analyzing gut microbes in combination with related metabolites in feces and blood, researchers in Nature Communications found distinct cardiometabolic disease relationships at each site. Study Reveals New Details About Genetics of Major Cause of Female Infertility Researchers in Nature Medicine conducted a whole-exome sequencing study of mote than a thousand patients with premature ovarian insufficiency.