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.
