In analyses of multiple traits and diseases, investigators uncovered loss-of-function or truncating changes with apparent protective effects.
In Cell this week: sequencing to understand medulloblastoma metastases, genome and transcriptome implicates TAP1 in X-linked Dystonia-Parkinsonism, and more.
In PNAS this week: mouse model of genetically induced emphysema, gene expression signatures of circulating melanoma cells, and more.
An analysis of metagenomic sequences from donor and recipient stool samples highlighted bacterial abundance, phylogeny, and strain features influencing engraftment.
The Danish informatics firm is exploring analytical tools for its InWeb_InBioMap network, which currently contains more than 700,000 protein-protein interactions.
The funding will be used to support the the newly established ME/CFS Collaborative Research Center at Stanford University.
The creator of the Genome Aggregation Database sees an ever-expanding GnomAD database as a centerpiece to improving the diagnosis of rare diseases.
Using RNA sequences for thousands of cells, researchers looked at head and neck squamous cell carcinomas and proposed streamlined expression subtypes.
Researchers are now using the approach to allow genome-wide sequencing to monitor disease and to investigate treatment response and resistance without the need for tissue biopsy.
Researchers have treated an X-linked genetic disease affecting three babies in utero, Stat News reports.
The Associated Press reports that the US Centers for Disease Control and Prevention is beefing up sequencing as a tool to investigate foodborne illnesses.
Researchers have sequenced samples from ancient toilets to study past eating habits and health, NPR reports.
In Nature this week: ash dieback disease fungal genome, and more.