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Informatics

News on bioinformatics, software, genome analysis, variant classification, and IT in genetics, genomics, and molecular diagnostics.

The firm has developed a digital platform that determines whether patients meet guidelines for genetic testing, and if so, what test they should receive.

The companies will pair sequencing with genotype-phenotype matching and analytics in pursuit of wider access to precision medicine and faster, more accurate diagnoses.

The test uses machine learning algorithms to assess predictive biomarkers and electronic health record information to identify progressive kidney disease.

The test is designed to determine breast cancer risk by analyzing a number of factors including breast density, breast biopsy history, and a polygenic score.

With 10,000 of Mayo's patients now sequenced for 77 genes, a subset of this information is being used to inform care while the bulk of the data is spurring research projects.