PatientMatcher: A customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network

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 establish...

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Detalles Bibliográficos
Autores principales: Rasi, Chiara, Nilsson, Daniel, Magnusson, Måns, Lesko, Nicole, Lagerstedt‐Robinson, Kristina, Wedell, Anna, Lindstrand, Anna, Wirta, Valtteri, Stranneheim, Henrik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Informatics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9311682/
https://www.ncbi.nlm.nih.gov/pubmed/35192731
http://dx.doi.org/10.1002/humu.24358

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9311682/
https://www.ncbi.nlm.nih.gov/pubmed/35192731
http://dx.doi.org/10.1002/humu.24358

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