Mass General
NIH Earmarks $38M for Consortium Studying Polygenic Risk Scores in Diverse Populations
The consortium aims to develop and evaluate methods for calculating polygenic risk scores for specific diseases, particularly for people of different ancestries.
The data, while limited, indicate that the firm's blood-only assay may be able to match the performance of existing commercial tissue-informed competitors.
ACMG Presentation Highlights Broad Institute's Massive Expansion of COVID-19 Testing Program
The Broad's clinical research sequencing lab now runs 135,000 tests each day and routinely tests more than 100 higher education sites and 40 schools in the state.
Researchers comparing structural variant detection using short- and long-read technologies said assembly-based methods can provide added value, despite missing certain CNVs.
Alzheimer's Disease Genomes Lead to Novel Loci Involved in Synaptic Function
Starting with genome sequences for thousands of individuals from Alzheimer's-affected families, researchers found rare disease-associated variants at 13 new loci.