Researchers were able to classify 1,244 of 4,585 putatively clinically relevant rare variants genotyped on the UKB microarray as high quality.
Researchers used exome data for more than 123,000 individuals to map "constrained coding regions," where disease-related variants are over-represented.
Genetic counselors, laboratories, and patients themselves have roles to play in reclassifying gene variants, including variants of uncertain significance.
The solution uses machine learning to pare down somatic variant lists, simplifying the task of manually reviewing the output of sequence analysis pipelines.
Patients with rare protein-truncating variants tended to have aggressive tumors while those with a high polygenic risk score often had milder disease.
The firm said genomic testing volume rose 23 percent year over year, and raised its revenue guidance for full-year 2018.
The company presented Color Data as a resource for variant classification scientists and hopes it will inspire industry peers to similarly share data.
The sequencing giant is migrating its BaseSpace analytics products to AWS in hopes of simplifying user adoption and rapidly expanding its library of curated content.
Canada's Gene42, maker of PhenoTips software, recently forged partnerships with CHOP, Genome Canada, and SeqOne in the fight against rare genetic diseases.
The tool, called Cerebro, significantly outperformed other publicly available methods, including in the less-trafficked areas of the genome that are now relevant for TMB immunotherapy prediction.
New results from the NASA Twins Study indicate that the immune system may rev up when in space, the Washington Post reports.
Kelvin Droegemeier, the new science advisor, spoke at the American Association for the Advancement of Science meeting, Geekwire reports.
In PNAS this week: whole-genome assembly for the white shark, paper-based microfluidic method for detecting the malaria parasite, and more.
The World Health Organization has announced the members of its gene-editing committee, according to NPR.