The firms will conduct PacBio whole-genome sequencing on epilepsy patients to generate variant profiles that can help the development of diagnostic assays.
More than 198,000 LOF variants turned up in exome sequences from 49,960 UK Biobank participants, including variants with potential ties to human traits.
The drugmaker has a small molecule drug called venglustat under Phase II development for Parkinson's disease patients with a specific genetic mutation.
Researchers uncovered rare, damaging mutations in genes involved in early brain development among 22 percent of 381 sporadic congenital hydrocephalus cases.
Researchers linked chromatin interactions, super-interactive promoters, and other regulatory features to specific cell types in the developing brain cortex.
The findings demonstrate the value of multi-cohort platform trials as an option for refractory cancer patients with particularly rare genomic tumor alterations.
An Invitae-led retrospective study found almost a third of cancer patients who underwent germline genetic testing after tumor sequencing had pathogenic variants.
