By sequencing several individuals with unexplained pancreas and brain development problems, investigators identified a recurrent missense mutation in the CNOT1 gene.
Common non-coding variants, along with rarer coding alterations, appear to contribute to a developmental disease with bowel and other gastrointestinal symptoms.
With available brain data, researchers came up with expression prediction models for finding new schizophrenia-related genes in a larger case-control set.
A draft genome for the three-banded panther worm served as the foundation to untangle regulatory and chromatin accessibility changes triggered during regeneration.
Using data for more than a million individuals with or without insomnia, two independent research teams tracked down associated risk loci and explored their functional effects.
Researchers prioritized schizophrenia risk SNPs from genome-wide association studies and used functional genomics to find transcription factor-disrupting risk SNPs.
An array-based analysis involving more than two dozen patients led to a miRNA signature associated with overall survival in primary central nervous system lymphoma.
A multi-omic analysis implicated a handful of transcription factors, along with genes and regulatory RNAs down- and upstream of them, in metastatic colorectal cancer.
In a set of new studies, members of an international team mapped gene variation, expression, and regulatory interactions in developing and adult human brains.
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.
