Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation

The dilemma of how to categorize and classify diseases has been debated for centuries. The field of medical genetics has historically approached nosology based on clinical phenotypes observed in patients and families. Advances in genomic sequencing and understanding of genetic contributions to disea...

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Detalles Bibliográficos
Autores principales: Thaxton, Courtney, Goldstein, Jennifer, DiStefano, Marina, Wallace, Kathleen, Witmer, P. Dane, Haendel, Melissa A., Hamosh, Ada, Rehm, Heidi L., Berg, Jonathan S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9221396/
https://www.ncbi.nlm.nih.gov/pubmed/35754516
http://dx.doi.org/10.1016/j.xgen.2022.100131

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9221396/
https://www.ncbi.nlm.nih.gov/pubmed/35754516
http://dx.doi.org/10.1016/j.xgen.2022.100131

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