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.
At a meeting this week, researchers and others discussed the regulatory oversight needed for germline genome editing.
The US Food and Drug Administration has asked questions about Myriad Genetics' GeneSight test, according to Bloomberg.
Researchers report that neutrophil extracellular traps appear to binds gallstones together, according to New Scientist.
In Science this week: approach to infer genotype-by-environment interaction from genetic variants associated with phenotypic variability, and more.