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Paper Details

Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.
BMC Med Genomics
12
2017
15q11, C282Y, HFE, HH, HPO, Human, PWS, Prader-Willi Syndrome, WGS, candidate genes, dysautonomia, dysautonomia-like symptoms, genes, genomic variants, hereditary hemochromatosis, human, parental allele, patients, phenotypic abnormalities
Author NameAffiliation
Kai WangZilkha Neurogenetic Institute, University of Southern California
Kai WangPresent Address: Department of Biomedical Informatics and Institute for Genomic Medicine, Columbia University Medical Center
Kai WangUniversity of Southern California
Kai WangUniversity of Southern California
Kai WangZilkha Neurogenetic Institute, University of Southern California
Kai WangUniversity of Southern California
Kai WangUniversity of Southern California
Kai WangPresent Address: Department of Biomedical Informatics and Institute for Genomic Medicine, Columbia University Medical Center
Gholson J LyonStanley Institute for Cognitive Genomics
Gholson J LyonStony Brook University
Gholson J LyonUtah Foundation for Biomedical Research
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Datasets

Dataset
Description
Source Link
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Release 1.2