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.