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Creation and evaluation of full-text literature-derived, feature-weighted disease models of genetically determined developmental disorders
There are >2500 different genetically determined developmental disorders (DD), which, as a group, show very high levels of both locus and allelic heterogeneity. This has led to the wide-spread use of evidence-based filtering of genome-wide sequence data as a diagnostic tool in DD. Determining whe...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9216525/ https://www.ncbi.nlm.nih.gov/pubmed/35670729 http://dx.doi.org/10.1093/database/baac038 |