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.
In an against-all-odds twist, a researcher studying exceeding rare FOXG1 mutations discovers her daughter has the syndrome.
An effort by Genomics Medicine Ireland is creating a database of diseases based on the genomics of people in Ireland. It now is looking into the possibility of including Scotland in its work.
In recent weeks, the direct-to-consumer genetics firm has rolled out a health hub where customers can share information concerning 18 common health conditions.
In PLOS this week, new genes associated with prostate cancer risk, genetic patterns in M. bovis, and more.