Close Menu

developmental disorder

Lineagen hopes to use PWNHealth's consumer-oriented model to expand access to its testing services for developmental delay and autism spectrum disorder.

Researchers found 253 candidate disease genes, based on 10,927 exomes from patients with autism spectrum disorder, developmental delay, or intellectual disability.

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.

Pages

The New York City Police Department will be removing DNA profiles from a local database if they are from people who were never convicted of a crime, the New York Times reports.

Science reports that accusations of sexual assault against a microbiome researcher has also led to questions about his academic certifications.

Wired reports that researchers are analyzing the DNA fish leave behind in water to study their populations.

In Science this week: comprehensive cellular map of the human thymus, evidence of admixture between the ancestors of Neanderthals and Denisovan and a 'superarchaic' population.