NHGRI
Phenome-Wide Association Study Links Hereditary Cancer Genes to Additional Phenotypes
The researchers uncovered 19 new gene-phenotype associations, both with links to other malignant conditions, but also with nonmalignant ones.
T2T Consortium Publishes Early Findings From Complete Human Genome Assembly
In a series of studies, investigators outlined methods used to produce a telomere-to-telomere version of the human genome, while touching on applications of the assembly.
Initial KidsCanSeq Findings Reveal Medical Recommendations Stemming From Germline Tests
Along with germline sequencing results, the research team tracked recommendations by pediatric oncologists in response to structured email reports outlining the results.
Dog GWAS Leads to Locus Linked to Digestive Condition in German Shepherds
Along with male sex, a variable number tandem repeat allele in the first intron of the MCHR2 gene showed ties to congenital idiopathic megaesophagus risk in German shepherds.
A gapless human Y chromosome assembly is in the works and should be available in the next several months, NHGRI's Adam Phillippy said at the meeting.