By partnering with telehealth provider PWNHealth, Lineagen wants to help children on the autism spectrum start treatment faster and qualify for more benefits.
Researchers were able to classify 1,244 of 4,585 putatively clinically relevant rare variants genotyped on the UKB microarray as high quality.
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.
Researchers representing scientists and students of Chinese descent voice their concerns about recent US policies and rhetoric.
Wired reports that researchers have shown they could reprogram a DNA-based computer.
Researchers say increased diversity in genomic studies will benefit all, PBS NewsHour reports.
In Science this week: whole-genome sequencing of single sperm cells, and more.