Researchers have developed a positional mapping approach to be used in conjunction with exome sequencing to limit the search for causative variants.
The gnomAD collection contains consistently called variant data for more than 126,000 diverse exomes and more than 15,000 whole-genome sequences.
Expression profiles of 1,900 B-cell acute lymphoblastic leukemia cases point to the presence of a subtype marked by rearrangements in transcription factor DUX4.
Investigators plan to expand the program nationwide, with the hope that it can help guide care for living family members and further understanding of causal diseases.
The company, which is part of Opko Health's BioReference Laboratories, recently hired a new managing director, who plans to expand the firm's market and testing portfolio.
In PLOS this week: germline variants in prostate cancer risk genes, genome of a Zika virus from patient without neurological complications, and more.
Clinicians and genetic counselors are coming up with triage strategies for cancer cases in which medically actionable germline mutations are suspected.
In PNAS this week: mutations linked to nasopharyngeal carcinoma, salivary proteins common among oral squamous cell carcinoma patients, and more.
A team from Radboud University in the Netherlands performed a new detailed and transparent cost analysis for sequencing based on both static costs, and factors that may differ from institution to institution.
Mutations in the PIEZO2 gene in two individuals with undiagnosed muscle, sensory, and skeletal conditions suggest the protein product plays a role in touch perception.
In Science this week: convergent evolution in bird hemoglobin, and more.
The Wall Street Journal speaks with patients affected by questionable test results from Theranos.
Researchers link variants in TACR3 to hot flashes during menopause, Live Science reports.
Kuwait says it will alter its law requiring citizens and visitors to provide DNA samples, New Scientist reports.