Researchers used exome data for more than 123,000 individuals to map "constrained coding regions," where disease-related variants are over-represented.
Deciphering Developmental Disorders study researchers estimated the portion of recessive coding diagnoses among patients of European and Pakistani ancestry.
Exome sequencing led to gain-of-function mutations in the calcium voltage-gated channel gene CACNA1E in 30 developmental and epileptic encephalopathy cases.
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.
The US Patent and Trademark Office is opening another interference proceeding in the CRISPR patent fight.
There's increasing genetic evidence that a number of ancient hominins may have contributed to the human gene pool, according to Discover's The Crux blog.
The Japan News writes that Japan needs to seize the opportunity to ensure that a wide number of people benefit from personalized cancer treatments.
In Cell this week: messenger RNA expression and translation, RNA localization atlas, and more.