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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Detalles Bibliográficos
Autores principales: Fang, Han, Wu, Yiyang, Yang, Hui, Yoon, Margaret, Jiménez-Barrón, Laura T., Mittelman, David, Robison, Reid, Wang, Kai, Lyon, Gholson J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5322674/
https://www.ncbi.nlm.nih.gov/pubmed/28228131
http://dx.doi.org/10.1186/s12920-017-0246-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5322674/
https://www.ncbi.nlm.nih.gov/pubmed/28228131
http://dx.doi.org/10.1186/s12920-017-0246-5

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