haplotype
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.
New Resource Combines Functional Genomics, Diploid Genomes for Variant Annotation
Coupling high-quality, long-read genomes with functional assays, researchers tracked the effects of genetic variants across dozens of tissue types in four individuals.
Childhood Epilepsy Risk Variant Traced Back to 800-Year-Old British Founder Event
A childhood epilepsy risk allele found in 14 affected families was traced back to a founder event going back 800 years that spread from Britain to other parts of the world.
Comprehensive Genealogy Spanning Modern, Ancient Humans Emerges from Large-Scale Genomic Analysis
Using a non-parametric tree-recording approach, researchers established a "genealogy of everyone" that is expected to inform human evolutionary studies.
Team Shares Chinese Genome Resource, Population Reference Panel
Researchers identified more than 79.2 million variants in Chinese individuals for the "NyuWa" resource, along with a smaller reference panel representing variants found across the country.