NYGC

A study found that cis-regulatory variation modifies the penetrance of coding variants, and that variants' regulatory haplotype configuration affects disease risk.

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.

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 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.