Among the uses of the funding, UW will conduct exome sequencing to determine a patient's risk for developing the disease.
A group of 10 so-called PediSeeker volunteers from the Children's Hospital of Philadelphia interpreted secondary variants in PediSeq exomes.
Emory's Madhuri Hegde presented two cases that illustrate how researchers can initially be led astray in their initial interpretation of exome data.
According to the researchers, the method provides an alternative to commercially available solutions at a lower cost per sample.
The hospital has analyzed about 50 patients since launching in February using Illumina's TruSight One panel and NextSeq 500 instrument.
In PNAS this week: rare variants linked to bleeding disorder, comparison of whole-exome and whole-genome sequencing, and more.
George Church tells The Sunday Times that his group has inserted some woolly mammoth genes into elephant cells.
A Scientific Reports editor resigns over a new policy at the journal allowing researchers to pay to fast track the peer review of their manuscripts, and poll.
The National Cancer Institute's Harold Varmus discusses the state of cancer research with the New York Times.
This live online seminar will highlight recent trends in applying next-generation sequencing in the clinical setting, with a particular focus on oncology and rare disease.