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Volumn 36, Issue 10, 2015, Pages 950-956

Innovative Genomic Collaboration Using the GENESIS (GEM.app) Platform

Author keywords

Data sharing; Exome; Matchmaker exchange; Mendelian disease; Next generation sequencing

Indexed keywords

ARTICLE; BIOINFORMATICS; COMPUTER INTERFACE; COMPUTER PROGRAM; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC DISORDER; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN GENOME; NEXT GENERATION SEQUENCING; PHENOTYPE; PNPLA6 GENE; PRIORITY JOURNAL; BIOLOGY; GENETIC DATABASE; GENETIC PREDISPOSITION; GENETIC VARIATION; GENETICS; INFORMATION DISSEMINATION; PROCEDURES; RARE DISEASE; SOFTWARE; WEB BROWSER;

EID: 84941876178     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22836     Document Type: Article
Times cited : (87)

References (9)
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    • 84924206735 scopus 로고    scopus 로고
    • Mitochondrial disease sequence data resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities
    • Falk MJ, Shen L, Gonzalez M, Leipzig J, Lott MT, Stassen AP, Diroma MA, Navarro-Gomez D, Yeske P, Bai R, Boles RG, Brilhante V, et al. 2015. Mitochondrial disease sequence data resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities. Mol Genet Metab 114:388-396.
    • (2015) Mol Genet Metab , vol.114 , pp. 388-396
    • Falk, M.J.1    Shen, L.2    Gonzalez, M.3    Leipzig, J.4    Lott, M.T.5    Stassen, A.P.6    Diroma, M.A.7    Navarro-Gomez, D.8    Yeske, P.9    Bai, R.10    Boles, R.G.11    Brilhante, V.12
  • 9
    • 84856780037 scopus 로고    scopus 로고
    • Statistical guidance for experimental design and data analysis of mutation detection in rare monogenic Mendelian diseases by exome sequencing
    • Zhi D, Chen R. 2012. Statistical guidance for experimental design and data analysis of mutation detection in rare monogenic Mendelian diseases by exome sequencing. PLoS One 7:e31358.
    • (2012) PLoS One , vol.7 , pp. e31358
    • Zhi, D.1    Chen, R.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.