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 company, Gencove, was founded by the developers of a consumer-focused, smartphone-accessible genetic testing program launched in beta as Seeq.
In PNAS this week: analytical method for assessing shared variants, treatment targets in hereditary pancreatic cancer, and more.
The scientists aim to better understand a phenomenon where the severity of effects of a particular genetic mutation differs among individuals who carry it.
The New York Genome Center spinout has been conducting a pilot project involving Oxford Nanopore's MinIon with a Manhattan middle school.
A new report offers ways for small, society publishers to transition to Plan S standards, ScienceInsider says.
A gas explosion sparked a fire at a Russian laboratory that stores dangerous pathogens, the Guardian reports.
Researchers turn to protein analysis to examine an ancient rhino sample, Smithsonian.com reports.
In PNAS this week: C2CD4A gene involved in insulin secretion, chromosome rearrangements in recurring S. aureus infections, and more.