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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Dades bibliogràfiques
Publicat a:BMC Med Genomics
Autors principals: Fang, Han, Wu, Yiyang, Yang, Hui, Yoon, Margaret, Jiménez-Barrón, Laura T., Mittelman, David, Robison, Reid, Wang, Kai, Lyon, Gholson J.
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2017
Matèries:
Research Article
Accés en línia: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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