Common non-coding variants, along with rarer coding alterations, appear to contribute to a developmental disease with bowel and other gastrointestinal symptoms.
The company presented new data on the performance of a multi-pronged liquid biopsy assay in detecting colorectal cancers across a range of clinical stages.
In Cell this week: factors that regulate the differentiation of T helper type 2, structural variants teased out from long-read sequenced human genomes, and more.
At the Plant and Animal Genome conference, Daniel Promislow provided details on the longitudinal, open science effort, which is preparing to study up to 10,000 pet dogs.
Researchers found 253 candidate disease genes, based on 10,927 exomes from patients with autism spectrum disorder, developmental delay, or intellectual disability.
Exome sequencing led to gain-of-function mutations in the calcium voltage-gated channel gene CACNA1E in 30 developmental and epileptic encephalopathy cases.
St. Jude Children's Research Hospital scientists have treated infants with X-linked severe combined immunodeficiency using gene therapy in an early phase study.
In Nature this week: a genomic analysis of the snailfish Pseudoliparis swirei, ancient DNA analysis gives insight into the introduction of farming to England, and more.
