variant classification

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.

Franklin, an AI-driven variant classification tool, is helping Sanford Imagenetics reduce variants of unknown significance in its new ACMG-59 genotyping test.

As part of an NIH SBIR grant, Genomenon is automating the curation of medical literature in its Mastermind variant interpretation software.

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.

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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.

An article in The Atlantic argues that the progress being made in science isn't keeping pace with the money and time being spent on research.

In Science this week: a CRISPR screen identifies sideroflexin 1 as a requisite component of one-carbon metabolism, and more.