By sequencing several individuals with unexplained pancreas and brain development problems, investigators identified a recurrent missense mutation in the CNOT1 gene.
Sequence data for nine Crusaders buried in Lebanon identified individuals with European, Near Eastern, or mixed ancestry, but no lasting genetic effect on the wider population.
In Genome Biology this week: genomic sequencing of milkweed bug, benchmark comparison of single-cell RNA sequencing platforms, and more.
Researchers found a potential alternative toxin, as well as antibiotic resistance genes, in a newly-sequenced Vibrio cholerae strain from a British WWI soldier.
The project dovetails with a separate effort to sequence the whole exomes of the samples, the first 50,000 of which became available to researchers this month.
Analyzing mutational signatures in cancer cell lines and xenografts, investigators identified mutagenic processes that do or don't remain active in vitro.
In Nature this week: new CRISPR nuclease described, gut bacteria reference, and more.
Two research groups have cultured and sequenced microbes in fecal samples from healthy volunteers, producing new reference genomes for hundreds of species.
Two new studies found that prenatal whole-exome sequencing could uncover clinically significant variants in an additional 8 to 12 percent of fetuses with structural anomalies.
Researchers saw variants contributing to both ends of the weight spectrum by analyzing thousands of thin, early-onset obese, and population control individuals.
The New York Times Magazine examines gender discrimination at the Salk Institute.
Science reports that MD Anderson Cancer Center has dismissed three researchers over foreign tie concerns.
A second death in gene therapy trial for type 1 spinal muscular atrophy is under investigation, according to Reuters.
In PLOS this week: antibiotic resistance patterns in Escherichia coli, a dozen genetic loci tied to varicose vein risk, and more.