University of British Columbia
Canadian Genomics Research Project Pointing Indigenous Rare Disease Patients Toward Diagnosis
The Precision Diagnosis Study offers whole-genome sequencing to First Nations, Métis, and Inuit patients with suspected genetic conditions.
Silent Genomes Project to Address Genomic Medicine Disparities for Canadian Indigenous Communities
The project, presented last week at the annual AGBT meeting, hopes to establish a genomic research governance framework and to build a variant library with Indigenous communities.
These difficulties may in part stem from how polygenic risk score reports present risk information, a handful of studies have found.
Single-Cell Sequencing Reveals Breast, Ovarian Cancer-Related Mutational Processes
Tracing structural variants and haplotype patterns in individual cells, researchers uncovered mutational processes that contribute to cancer formation, diversity, and evolution.
Heart Disease Genes Flagged by Rare Variant Analysis of Spontaneous Coronary Artery Dissection
With exome sequencing, researchers found risky rare variants in genes involved in vascular connective tissue disease, related monogenic conditions, or past association studies.