exome sequencing

Researchers identified germline and somatic changes that marked low-grade and high-grade cases in adults and children with a condition called neurofibromatosis 1.

Researchers used exome data for more than 123,000 individuals to map "constrained coding regions," where disease-related variants are over-represented.

DNA sequence data from 416 neuroblastoma cases led to informative alterations affecting genes from telomere maintenance, RAS, or TP53 pathways.

The company said that future health tests it might launch in its store may require features that are only available on version 2 of the Exome+ test.

Deciphering Developmental Disorders study researchers estimated the portion of recessive coding diagnoses among patients of European and Pakistani ancestry.

Researchers investigated the possibility of picking up intra-tumor genetic heterogeneity in tumor exomes, identifying false-positives and technical noise.

A re-analysis of genomic tests for 309 children with epilepsy altered diagnoses for more than a third of patients with a previously reported genetic variant.

British genomics interpretation software vendor Congenica will help researchers analyze WGS and WES in search of a genetic cause for sudden unexpected death in epilepsy.

The study provided whole-exome diagnostic sequencing for 106 newborns with hearing loss while also offering optional screening results for genes associated with childhood-onset conditions.

Exome sequencing led to gain-of-function mutations in the calcium voltage-gated channel gene CACNA1E in 30 developmental and epileptic encephalopathy cases.

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A genome-wide association study highlights a potential role for hair follicles in acne risk, according to New Scientist.

Newsday reports that breast cancer genetic testing guidelines for are out of date and may miss individuals.

In Cell this week: gene editing-based strategy to screen for immune system regulators, ancient plague patterns, and more.

Publication of He Jiankui's work on gene-edited infants would raise ethical concerns for journals, Wired and others report.