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Volumn 33, Issue 20, 2017, Pages 3317-3319

Pheno4J: A gene to phenotype graph database

(31)  Mughal, Sajid a   Moghul, Ismail b   Yu, Jing c   Clark, Tristan d   Gregory, David S d   Pontikos, Nikolas d,e,f   Black, Graeme g   Hall, Georgina g   Ingram, Stuart g   Gillespie, Rachel g   Manson, Forbes g   Sergouniotis, Panagiotis g   Inglehearn, Chris g   Toomes, Carmel g   Ali, Manir g   McKibbin, Martin g   Poulter, James g   Khan, Kamron g   Lord, Emma g   Nemeth, Andrea g   more..

g NONE

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGY; GENETIC DATABASE; GENETIC VARIATION; HUMAN; PHENOTYPE; PROCEDURES; SOFTWARE;

EID: 85031777988     PISSN: 13674803     EISSN: 14602059     Source Type: Journal    
DOI: 10.1093/bioinformatics/btx397     Document Type: Article
Times cited : (9)

References (5)
  • 1
    • 84895858942 scopus 로고    scopus 로고
    • A general framework for estimating the relative pathogenicity of human genetic variants
    • Kircher, M. et al. (2014) A general framework for estimating the relative pathogenicity of human genetic variants. Nat. Genet., 46, 310-315.
    • (2014) Nat. Genet. , vol.46 , pp. 310-315
    • Kircher, M.1
  • 2
    • 84956789052 scopus 로고    scopus 로고
    • Efficient genotype compression and analysis of large genetic-variation data sets
    • Layer, R.M. et al. (2016) Efficient genotype compression and analysis of large genetic-variation data sets. Nat. Methods, 13, 63-65.
    • (2016) Nat. Methods , vol.13 , pp. 63-65
    • Layer, R.M.1
  • 3
    • 84959878351 scopus 로고    scopus 로고
    • BGT: Efficient and flexible genotype query across many samples
    • Li, H. (2016) BGT: efficient and flexible genotype query across many samples. Bioinformatics, 32, 590-592.
    • (2016) Bioinformatics , vol.32 , pp. 590-592
    • Li, H.1
  • 4
    • 84973338712 scopus 로고    scopus 로고
    • The Ensembl variant effect predictor
    • McLaren, W. et al. (2016) The Ensembl variant effect predictor. Genome Biol., 17, 122.
    • (2016) Genome Biol. , vol.17 , pp. 122
    • McLaren, W.1
  • 5
    • 84954358609 scopus 로고    scopus 로고
    • The human phenotype ontology: A tool for annotating and analyzing human hereditary disease
    • Robinson, P.N. et al. (2008) The human phenotype ontology: a tool for annotating and analyzing human hereditary disease. Am. J. Hum. Genet., 83, 610-615.
    • (2008) Am. J. Hum. Genet. , vol.83 , pp. 610-615
    • Robinson, P.N.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.