whole-genome sequencing
ACMG Adds Three New Genes to Secondary Findings List
The American College of Medical Genetics and Genomics has added three new cardiovascular genes to the latest release of its secondary finding list.
Human-Specific Features Found With CRISPR Screening on Stem Cells
With loss-of-function screens on human, chimp, and orangutan stem cells, researchers narrowed in on species-specific genetic dependencies involving dozens of genes.
Pacific Biosciences, Radboud University Partner to Study Clinical Use of Long-Read Sequencing
PacBio said it will provide reagent donations and discounts to Radboud University Medical Center, as well as technical and bioinformatics expertise.
Consortium Produces Pangenome Reference Spanning Dozens of Chinese Populations
Researchers put together a pangenome reference with high-quality, haplotype-phased genome assemblies for individuals from minority and majority populations in China.
ESHG: New Variant Analyses by Broad Institute Enhance Rare Disease Diagnostics
Analyzing data from the Broad's Center for Mendelian Genomics, researchers showed the diagnostic utility of exome CNVs and mitochondrial DNA variants.