The researchers plan to investigate whether whole-genome sequencing can cost-effectively improve the diagnostic rate for leukodsystrophy patients.
The researchers used both targeted and exome sequencing to genetically diagnose patients.
In a case study, the researchers used PacBio's Sequel instrument to identify a pathogenic deletion that had been missed by short-read sequencing technology.
NIH researchers got tantalizingly close to long-term engraftment at levels that could provide a clinical benefit in gene therapy applications.
The partners will work to offer panel-based genetic characterization for a US-based cohort.
In PNAS this week: variation patterns in wheat lines, regulatory variation in Capsella grandiflora, and more.
A Rockefeller University researcher is using edited ants to explore complex biological systems, the New York Times writes.
There's a heritable aspect to how much time people spend online, the Los Angeles Times reports.
Stat News reports that Joseph Gulfo is another contender for FDA commissioner.