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Volumn 16, Issue 1, 2015, Pages

MAC: Identifying and correcting annotation for multi-nucleotide variations

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; CODON; COMPUTER PROGRAM; DATA PROCESSING; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; MOLECULAR GENETICS; MULTINUCLEOTIDE VARIANT; PREDICTION; SINGLE NUCLEOTIDE VARIANT; GENETICS; HIGH THROUGHPUT SEQUENCING; HUMAN; HUMAN GENOME; NEOPLASM; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84938088502     PISSN: None     EISSN: 14712164     Source Type: Journal    
DOI: 10.1186/s12864-015-1779-7     Document Type: Article
Times cited : (26)

References (14)
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  • 2
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    • Novel multi-nucleotide polymorphisms in the human genome characterized by whole genome and exome sequencing
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    • (2010) Nucleic Acids Res , vol.38 , Issue.18 , pp. 6102-6111
    • Rosenfeld, J.A.1    Malhotra, A.K.2    Lencz, T.3
  • 4
    • 58149459327 scopus 로고    scopus 로고
    • TP53 mutation signature supports involvement of aristolochic acid in the aetiology of endemic nephropathy-associated tumours
    • Nedelko T, Arlt VM, Phillips DH, Hollstein M. TP53 mutation signature supports involvement of aristolochic acid in the aetiology of endemic nephropathy-associated tumours. Int J Cancer. 2009;124(4):987-90.
    • (2009) Int J Cancer , vol.124 , Issue.4 , pp. 987-990
    • Nedelko, T.1    Arlt, V.M.2    Phillips, D.H.3    Hollstein, M.4
  • 6
    • 14644438645 scopus 로고    scopus 로고
    • Mutations induced by ultraviolet light
    • Pfeifer GP, You YH, Besaratinia A. Mutations induced by ultraviolet light. Mutat Res. 2005;571(1-2):19-31.
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    • Pfeifer, G.P.1    You, Y.H.2    Besaratinia, A.3
  • 9
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    • Haplotype phasing: existing methods and new developments
    • Browning SR, Browning BL. Haplotype phasing: existing methods and new developments. Nat Rev Genet. 2011;12(10):703-14.
    • (2011) Nat Rev Genet , vol.12 , Issue.10 , pp. 703-714
    • Browning, S.R.1    Browning, B.L.2
  • 10
    • 77956534324 scopus 로고    scopus 로고
    • ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
    • Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010;38(16):e164.
    • (2010) Nucleic Acids Res , vol.38 , Issue.16 , pp. e164
    • Wang, K.1    Li, M.2    Hakonarson, H.3
  • 11
    • 84862506964 scopus 로고    scopus 로고
    • A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3
    • Cingolani P, Platts A, le Wang L, Coon M, Nguyen T, Wang L, et al. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3. Fly. 2012;6(2):80-92.
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  • 12
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    • Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
    • McLaren W, Pritchard B, Rios D, Chen Y, Flicek P, Cunningham F. Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor. Bioinformatics. 2010;26(16):2069-70.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.