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Aggregation of population‐based genetic variation over protein domain homologues and its potential use in genetic diagnostics
Whole exomes of patients with a genetic disorder are nowadays routinely sequenced but interpretation of the identified genetic variants remains a major challenge. The increased availability of population‐based human genetic variation has given rise to measures of genetic tolerance that have been use...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656839/ https://www.ncbi.nlm.nih.gov/pubmed/28815929 http://dx.doi.org/10.1002/humu.23313 |