Exome or targeted sequencing on members of families affected by Carey-Fineman-Ziter syndrome led to mutations in the MYMK gene that impact muscle cell fusion.
The company aims to develop a DNA version of its platform for preparing small RNA and RNA fragment sequencing libraries.
Investigators identified new recurrently mutated genes and overlap with other histological endometrial cancer subtypes by profiling more than a dozen CCEC cases.
The researchers analyzed samples from 161 dog breeds to examine the origins of modern dogs and examine the haplotypes of each clade.
In Genome Research this week: longitudinal study of Burkholderia cenocepacia isolates from cystic fibrosis patients, long-read assembly approach, and more.
At the ACMG annual conference in Phoenix last week, several labs and companies discussed their efforts in healthy genome sequencing.
An NHGRI-led team found a variant in the SEMA4D gene that was present in people of African descent, but not in people of Asian or European ancestry.
Increasingly, researchers are combining sequencing, mapping, and scaffolding technologies to generate more contiguous and accurate reference genomes.
In PLOS this week: co-evolution between myxoma viruses and rabbits, genome analysis of fish pathogen, and more.
The project is the consumer genomics firm's latest effort to improve diversity in genetics research.
Gene drives might run into biological resistance, the Economist reports.
Forensic experts exhumed painter Salvador Dalí's body to collect DNA for a paternity test, CBS News reports.
Yale Environment 360 writes that synthetic and conservation biologists aren't always on the same wavelength, but they are trying to reach an understanding.
In Science this week: full CRISPR locus integration complex structure, and more.