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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...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2022
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| Materias: | |
| 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 |