Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine
作者: Han FangYiyang WuHui YangMargaret YoonLaura T. Jiménez-BarrónDavid MittelmanReid RobisonKai WangGholson J. Lyon
作者单位: 1Stanley Institute for Cognitive Genomics, One Bungtown Road, Cold Spring Harbor Laboratory
2Stony Brook University
3Simons Center for Quantitative Biology, One Bungtown Road, Cold Spring Harbor Laboratory
4Zilkha Neurogenetic Institute, University of Southern California
5Neuroscience Graduate Program, University of Southern California
6Centro de Ciencias Genomicas, Universidad Nacional Autonoma de Mexico
7Tute, Genomics Inc.
8Utah Foundation for Biomedical Research
9University of Southern California
10Columbia University Medical Center
11Stanley Institute for Cognitive Genomics, One Bungtown Road,
刊名: BMC Medical Genomics, 2017, Vol.10 (1)
来源数据库: Springer Journal
DOI: 10.1186/s12920-017-0246-5
关键词: Whole genome sequencingPrecision medicineHuman phenotype ontologyPhenolyzerVariant callingPrader–Willi SyndromeDysautonomiaHemochromatosis
英文摘要: 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.
原始语种摘要: 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.
全文获取路径: Springer  (合作)
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来源刊物:
影响因子:3.466 (2012)

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关键词翻译
关键词翻译
  • sequencing 排序
  • genome 基因组
  • genomic 染色体组的
  • medicine 
  • pedigree 谱系图
  • complex 超群
  • vocabulary 词汇
  • however 然而
  • phenotype 表型
  • providing 只要