Inherited Diseases, Mendelian Disease | GenomeWeb

Inherited Disease

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.