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Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine
BACKGROUND: Human Phenotype Ontology (HPO) has risen as a useful tool for precision medicine by providing a standardized vocabulary of phenotypic abnormalities to describe presentations of human pathologies; however, there have been relatively few reports combining whole genome sequencing (WGS) and...
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| Publicado no: | BMC Med Genomics |
|---|---|
| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5322674/ https://ncbi.nlm.nih.gov/pubmed/28228131 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-017-0246-5 |
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