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mutation detection

A new analysis found kidney disease-related pathogenic or likely pathogenic variants in exomes for roughly 9 percent of individuals with chronic kidney disease.

Silicon Valley Startup Jungla has a 10-year vision of its founders to improve large-scale correlation of mutations and disease.

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

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

With genealogical data for 3.4 million individuals from Quebec, investigators traced a rare heart and digestive disease back to two 17th century founder families.

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

Using DNA sequence, gene expression, methylation, and drug response data, researchers saw alterations linked to ovarian cancer subtypes and drug responses.

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.

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

Researchers saw frequent somatic mutations in esophageal tissue from nine individuals, including mutations under positive selection in 14 oncogenes.

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23andMe and Airbnb have partnered to offer "heritage travel," according to Venture Beat.

China may include regulations protecting genes and embryos in its update of its civil code, Nature News reports.

In Nature this week: exome sequence analysis of individuals with type 2 diabetes, genomic prediction of maize yield across environments, and more.

NPR reports on efforts to engineer bacteriophages to destroy antibiotic-resistance bacteria.