developmental disorder

This Week in Nature

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.

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The Washington Post reports on a Federal Bureau of Investigation plan to place rapid DNA analyzers at booking stations around the country.

In an editorial, officials from scientific societies in the US and China call for the international community to develop criteria and standards for human germline editing.

The US National Institutes of Health is to review studies that have received private support for conflicts of interest, according to the New York Times.

In Science this week: the PsychENCODE Consortium reports on the molecular mechanisms of neuropsychiatric disorders, and more.