Using genotyping profiles for nearly 256,000 individuals, researchers uncovered more than 100 new loci involved in nearsightedness.
The partners have agreed to codevelop targeted sequencing kits based on single-molecule molecular inversion probes.
Funded with €15.4 million from the EU's Horizon 2020 program, the researchers plan to reanalyze almost 20,000 patient exomes and conduct additional tests on selected subgroups.
The partners are planning to conduct meta-analyses of shared exome datasets from patients with inherited neurological disorders.
A research duo estimates in PLOS One the number of papers that have used misidentified cell lines.
One group pointed out differences between study group characteristics, while the other wondered about the role of patient preference.
Researchers identified some 1.9 million structural variants using whole-genome sequence data from 250 families profiled for the Genome of the Netherlands project.
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.
Exome sequences from thousands of parent-child trios led to 10 new genes in which de novo mutations are over-represented in individuals with intellectual disability.
The firm's SelectMDx prostate cancer test will be used in conjunction with MRI to evaluate their combined effectiveness in nominating patients for prostate biopsy.
St. Jude Children's Research Hospital scientists have treated infants with X-linked severe combined immunodeficiency using gene therapy in an early phase study.
Bloomberg reports that the DNA-for-cash deal reported in Kentucky might be a more widespread scam.
St. Louis Public Radio reports that some African Americans are turning to DNA ancestry testing to help guide genealogical searches.
In Nature this week: a genomic analysis of the snailfish Pseudoliparis swirei, ancient DNA analysis gives insight into the introduction of farming to England, and more.