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Implementation of individualised polygenic risk score analysis: a test case of a family of four.

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第一作者： Manuel,Corpas

第一单位： Cambridge Precision Medicine Limited, ideaSpace, University of Cambridge Biomedical Innovation Hub, Cambridge, UK. m.corpas@cpm.onl.;Institute of Continuing Education, University of Cambridge, Cambridge, UK. m.corpas@cpm.onl.;Facultad de Ciencias de La Salud, Universidad Internacional de La Rioja, Madrid, Spain. m.corpas@cpm.onl.

作者： Manuel,Corpas ^[1] ; Karyn,Megy ^[2] ; Antonio,Metastasio ^[3] ; Edmund,Lehmann ^[4]

作者单位： Cambridge Precision Medicine Limited, ideaSpace, University of Cambridge Biomedical Innovation Hub, Cambridge, UK. m.corpas@cpm.onl.;Institute of Continuing Education, University of Cambridge, Cambridge, UK. m.corpas@cpm.onl.;Facultad de Ciencias de La Salud, Universidad Internacional de La Rioja, Madrid, Spain. m.corpas@cpm.onl. ^[1] Cambridge Precision Medicine Limited, ideaSpace, University of Cambridge Biomedical Innovation Hub, Cambridge, UK.;Department of Haematology, University of Cambridge & NHS Blood and Transplant, Cambridge, UK. ^[2] Cambridge Precision Medicine Limited, ideaSpace, University of Cambridge Biomedical Innovation Hub, Cambridge, UK.;Camden and Islington NHS Foundation Trust, London, UK. ^[3] Cambridge Precision Medicine Limited, ideaSpace, University of Cambridge Biomedical Innovation Hub, Cambridge, UK. ^[4]

关键词 Disease prevention Genetic risk Phenotypes Polygenic risk scores

医学主题词等位基因(Alleles);疾病遗传易感性(Genetic Predisposition to Disease);全基因组关联研究(Genome-Wide Association Study);人类(Humans);多因子遗传(Multifactorial Inheritance);多态性, 单核苷酸(Polymorphism, Single Nucleotide);危险因素(Risk Factors)

DOI 10.1186/s12920-022-01331-8

PMID 36192731

发布时间 2024-09-21

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