Researchers reached clinical diagnoses in 35 percent of cases undergoing evaluation over 20 months, sometimes leading to treatment changes.
The UK-based maker of clinical genomics interpretation software is moving into the US and China after carefully researching the differences from European markets.
A new study suggests that common variants influence neurodevelopmental disorder risk and the way the conditions manifestation themselves.
CHOP's Gabriella Miller Kids First Pediatric Data Resource Center will use PhenoTips software from Gene42 to integrate "deep phenotyping" with genomic data.
A new deep neural network approach used common variants in non-human primate genomes to distinguish between benign variants and those involved in human disease.
Using exome sequences from individuals with developmental delays, heart defects, and limb abnormalities, investigators identified four TRAF7 mutations.
Using exome sequences for 6,753 parent-child trios, researchers saw genes with increased de novo variant burdens in neurodevelopmental disorders with epilepsy.
Researchers from A*Star and elsewhere have implicated a recessive mutation in CAMK2A in a neurodevelopmental disorder affecting a pair of siblings.
HudsonAlpha's Greg Barsh described results from a Clinical Sequencing Exploratory Research project during the institute's ongoing Genomic Medicine Conference.
As part of Invitae's network, patients can build datasets tracking their experiences with rare conditions and make the deidentified data available for research.
Senator Elizabeth Warren (D-Mass.) has released the results of a genetic ancestry analysis, the Boston Globe reports.
Retraction Watch's Ivan Oransky and Adam Marcus report that Harvard Medical School and Brigham and Women's Hospital have recommended that more than 30 papers from a former researcher be retracted.
Thomas Steitz, who won the 2009 chemistry Nobel Prize for his ribosome work, has died, the Washington Post reports.
In PLOS this week: mechanisms for genes implicated in coronary artery disease, rumen microbes and host genetics influence cow methane production, and more.