A study found that cis-regulatory variation modifies the penetrance of coding variants, and that variants' regulatory haplotype configuration affects disease risk.
The New York Genome Center created MetroNome as a way to show genomic data in the context of phenotypes, but integration challenges lie ahead.
The funding from the Mark Foundation for Cancer Research will support an initiative to investigate cancer genomics in ethnically diverse populations.
Researchers at the annual Association of Biomolecular Resource Facilities meeting said they are joining single-cell sequencing to other single-cell analyses.
Lancet, developed by the New York Genome Center, uses colored de Bruijn graphs to jointly analyze tumor and normal reads.
Using exome sequence and questionnaire data, researchers saw links between motor skills and likely gene disruptive or missense de novo mutations.
Using a portable DNA sequencer and a Bayesian algorithm, researchers reported being able to reidentify humans from DNA within minutes of sequencing.
The group has filed a patent on the method and is interested in teaming up with an industry partner to commercialize it.
The team said the resource allows for single-target or combinatorial genetic screens to be carried out at scale in a multiplexed or arrayed format.
New York Genome Center, Rockefeller University, and IBM researchers combined whole-genome sequencing with Watson to analyze a glioblastoma sample.
The New York Times and ProPublica look into the close relationship between a startup and Memorial Sloan Kettering Cancer Center.
Yahoo News reports millions of dollars are being transferred from NIH, CDC, and other programs to pay for the housing of detained undocumented immigrant children.
In Science this week: in vitro generation of human reproductive cells, and more.
Researchers gave a handful of octopuses MDMA to find that they too act more social on the drug, Gizmodo reports.