PatientMatcher: A customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network - Rasi, Chiara; Nilsson, Daniel; Magnusson, Måns; Lesko, Nicole; Lagerstedt‐Robinson, Kristina; Wedell, Anna; Lindstrand, Anna; Wirta, Valtteri; Stranneheim, Henrik (Human mutation, 2022)
Keywords: algorithm; data availability; data integration; Disease; e-mail; equipment design; gene discovery; Genetic analysis; Genetic Association Studies; genetic association study; Genetic disorders; genetic predisposition; Genetic Predisposition to Disease; genetics; genomic API; genomic medicine; Genomics; genotype; Genotypes; human; Humans; Informatics; information dissemination; Matchmaker Exchange; matchmaking; open source software; patient coding; patient information; Patients; Phenotypes; procedures; rare disease; Rare Diseases; software; undiagnosed disease; Undiagnosed Diseases; rare disease; Matchmaker Exchange; gene discovery; genomic API; matchmaking