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Volumn 6, Issue 1, 2016, Pages 1-9

Information technology support for clinical genetic testing within an academic medical center

Author keywords

GeneInsight; Genetic testing process; GIGPAD; Information technology support; LIMS; LIS

Indexed keywords

GENETIC SCREENING; INFORMATION TECHNOLOGY;

EID: 85022217147     PISSN: None     EISSN: 20754426     Source Type: Journal    
DOI: 10.3390/jpm6010004     Document Type: Article
Times cited : (9)

References (13)
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    • Communicating new knowledge on previously reported genetic variants
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    • Aronson, S. J.; Clark, E. H.; Varugheese, M.; Baxter, S.; Babb, L. J.; Rehm, H. L. Communicating new knowledge on previously reported genetic variants. Genet. Med. 2012, 14, 713-719. [CrossRef] [PubMed].
    • (2012) Genet. Med , vol.14 , pp. 713-719
    • Aronson, S.J.1    Clark, E.H.2    Varugheese, M.3    Baxter, S.4    Babb, L.J.5    Rehm, H.L.6
  • 5
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  • 9
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    • VisCap: Inference and visualization of germ-line copy-number variants from targeted clinical sequencing data
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    • Pugh, T. J.; Amr, S. S.; Bowser, M. J.; Gowrisankar, S.; Hynes, E.; Mahanta, L. M.; Rehm, H. L.; Funke, B.; Lebo, M. S. VisCap: Inference and visualization of germ-line copy-number variants from targeted clinical sequencing data. Genet. Med. 2015. [CrossRef] [PubMed].
    • (2015) Genet. Med
    • Pugh, T.J.1    Amr, S.S.2    Bowser, M.J.3    Gowrisankar, S.4    Hynes, E.5    Mahanta, L.M.6    Rehm, H.L.7    Funke, B.8    Lebo, M.S.9
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    • Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
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    • Richards, S.; Aziz, N.; Bale, S.; Bick, D.; Das, S.; Gastier-Foster, J.; Grody, W. W.; Hegde, M.; Lyon, E.; Spector, E.; et al. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 2015, 17, 405-423. [CrossRef] [PubMed].
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    • Richards, S.1    Aziz, N.2    Bale, S.3    Bick, D.4    Das, S.5    Gastier-Foster, J.6    Grody, W.W.7    Hegde, M.8    Lyon, E.9    Spector, E.10
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    • ClinVar: Public archive of relationships among sequence variation and human phenotype
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    • Landrum, M. J.; Lee, J. M.; Riley, G. R.; Jang, W.; Rubinstein, W. S.; Church, D. M.; Maglott, D. R. ClinVar: Public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res. 2014, 42, D980-D985. [CrossRef] [PubMed].
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.