PatientMatcher: a customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network.
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DOI: 10.1002/humu.24358
Abstract: The amount of data available from genomic medicine has revolutionized the approach to identify the determinants underlying many rare diseases. The task of confirming a genotype-phenotype causality for a patient affected with a rare genetic… read more here.
Keywords: medicine; open source; disease; network ... See more keywords