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.
Franklin, an AI-driven variant classification tool, is helping Sanford Imagenetics reduce variants of unknown significance in its new ACMG-59 genotyping test.
A new deep neural network approach used common variants in non-human primate genomes to distinguish between benign variants and those involved in human disease.
Consulting company McKinsey says diagnostics companies will have to combine genomic data analysis, electronic medical records, effective reimbursement strategies, and regulatory compliance in order to win.
A new report has found that researchers in Africa are still heavily dependent on funding from organizations in the US, Europe, and China, Nature News says.
