Article

PatientMatcher: a customizable Python-based open-source tool for matching undiagnosed rare disease patients via the MatchMaker Exchange network

2021-10-07

Abstract excerpt

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 disease is often challenging. In this context, the establishment of the MatchMaker Exchange (MME) network has assumed a pivotal role in bridging heterogeneous patient informatio...

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Literature Corpus work: 55eb2546-798e-53f3-91f7-028b78b12625
DOI: 10.22541/au.163357695.56514755/v1

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