In Nature this week: genomic analysis of the invasive fall webworm, amp of constrained coding regions within the human genome, and more.
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.
The Centers for Disease Control and Prevention estimates more people get sick and die from drug-resistant germs than previously thought, the Washington Post reports.
According to the Associated Press, three universities and a healthcare institution are sharing a gift of $1 billion.
New rules seek to limit the type of scientific and medical research that can be used to guide public health regulations, the New York Times reports.
In Nature this week: FreeHi-C approach simulates Hi-C data from interacting genome fragments, and more.