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.
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.
