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.
Speakers at this year's ABRF meeting described how they used single-cell tools in combination with other single-cell approaches and other methods.
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.
In Cell this week: approach for mapping enhancers and their targets, comparative protein interaction analysis of dengue and Zika viruses, and more.
Researchers have engineered a plant that could help alleviate indoor air pollution, the Guardian reports.
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.
The researchers said that uncovering a genetic mechanism behind the condition could aid in the development of new treatments.
St. Jude Children's Research Hospital scientists have treated infants with X-linked severe combined immunodeficiency using gene therapy in an early phase study.
Bloomberg reports that the DNA-for-cash deal reported in Kentucky might be a more widespread scam.
St. Louis Public Radio reports that some African Americans are turning to DNA ancestry testing to help guide genealogical searches.
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.