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.
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.
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.
