NEW YORK (GenomeWeb News) — Through exome sequencing and functional assays, researchers led by the Wellcome Trust Sanger Institute's Matthew Hurles uncovered rare variants linked to congenital heart defects in humans.
NEW YORK (GenomeWeb News) – A pair of Nature Genetics studies described mutations in a telomere-related gene called protection of telomerase 1 (POT1) that are associated with higher-than-usual risk of melanoma skin cancer.
NEW YORK (GenomeWeb News) – In an effort to address the high failure rate of drug candidates in clinical studies, the Wellcome Trust Sanger Institute, the European Bioinformatics Institute, and GlaxoSmithKline have partnered to create a new center that will use genomics and big data technologies
Members of the UK10K whole-genome sequencing project have published a detailed description of their strategy to manage the return of potentially clinically significant findings to subjects of the three-year sequencing effort.
NEW YORK (GenomeWeb News) – A pair of papers published online today in Nature described the outcome of two large exome sequencing studies aimed at finding new and/or rare genetic contributors to schizophrenia.
An international team of researchers led by Robert Plenge from Brigham and Women's Hospital uncovered nearly four dozen loci linked to risk of rheumatoid arthritis, bringing the total number of known risk loci for the disease to 101.