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.
The method generates megabase-scale phased haplotype blocks and can be automated and scaled up to process samples for population sequencing projects.
In Nature this week: mitochondrial genome of extinct South American ungulate, and more.
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.
The approach, which uses 10x Genomics technology for haplotyping, requires neither mutation-specific assays nor DNA from affected family members.
The PGP team used Complete Genomics' Long-Fragment Read technology to analyze the set of samples.
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.
The New York Times reports that United Nations delegates have been discussing how to govern the genetic resources of the deep sea.
Researchers have transplanted edited cells into mice that appear to combat cocaine addiction, New Scientist reports.
In PNAS this week: analysis of proteolytic enzymes secreted by circulating tumor cells, phylogenetic study of Fv1 evolution, and more.