Using samples from heart failure patients and healthy controls, researchers uncovered a gene that, when absent in mice, reduced their risk of heart failure.
With deep learning, researchers profiled de novo noncoding variants in individuals with ASD from nearly 1,800 families, identifying regulatory factors and related pathways.
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.
In PNAS this week: links between lung adenocarcinoma and lncRNA, algorithm to impute and cluster Hi-C interaction profiles from single cells, and more.
