A study found that cis-regulatory variation modifies the penetrance of coding variants, and that variants' regulatory haplotype configuration affects disease risk.
With FALCON-Phase, investigators used PacBio long reads and Hi-C data from Phase Genomics to assemble a haplotype-phased, diploid genome for a hybrid bull.
A team reconstructed 38 percent of the maternal genome of an 18th century Icelandic immigrant and found that his mother came from a specific African region.
Investigators identified ties between autism spectrum disorder and mitochondrial haplogroups in mtDNA variant data from nearly 1,000 ASD-affected families.
Researchers showed in a new study that patterns of methylation co-occuring at different sites could help distinguish cancer DNA in the blood, and mark its original source in body.
Researchers identified some 1.9 million structural variants using whole-genome sequence data from 250 families profiled for the Genome of the Netherlands project.
The UK's Human Fertility and Embryology Authority calls for consumer genetic testing companies to warn customers that testing could uncover family secrets, according to the Guardian.
