Whole Genome Sequencing of One Complex Pedigree Illustrates Challenges with Genomic Medicine.
BMC medical genomics(2017)
摘要
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 HPO, especially in the context of structural variants.
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关键词
Whole genome sequencing,Precision medicine,Human phenotype ontology,Phenolyzer,Variant calling,Prader–Willi Syndrome,Dysautonomia,Hemochromatosis
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