메뉴 건너뛰기




Volumn 7, Issue 1, 2014, Pages

Comparison of insertion/deletion calling algorithms on human next-generation sequencing data

Author keywords

Concordance; GATK; Indels; Next generation sequencing; Pindel; Validation

Indexed keywords

ALGORITHM; COMPARATIVE STUDY; GENE DELETION; GENE EXPRESSION REGULATION; HUMAN; PROCEDURES; SEQUENCE ANALYSIS; VALIDATION STUDY;

EID: 84964315605     PISSN: None     EISSN: 17560500     Source Type: Journal    
DOI: 10.1186/1756-0500-7-864     Document Type: Article
Times cited : (48)

References (23)
  • 7
    • 1542635123 scopus 로고    scopus 로고
    • A lrpap1 intronic insertion/deletion polymorphism and phenotypic variability in Alzheimer disease
    • discussion 335-338
    • Schutte DL, Maas M, Buckwalter KC: A LRPAP1 intronic insertion/deletion polymorphism and phenotypic variability in Alzheimer disease. Res Theory Nurs Pract 2003, 17:301-319. discussion 335-338.
    • (2003) Res Theory Nurs Pract , vol.17 , pp. 301-319
    • Schutte, D.L.1    Maas, M.2    Buckwalter, K.C.3
  • 8
    • 84899964765 scopus 로고    scopus 로고
    • Impact of human pathogenic micro-insertions and micro-deletions on post-transcriptional regulation
    • Zhang X, Lin H, Zhao H, Hao Y, Mort M, Cooper DN, Zhou Y, Liu Y: Impact of human pathogenic micro-insertions and micro-deletions on post-transcriptional regulation. Hum Mol Genet 2014, 23:3024-3034.
    • (2014) Hum Mol Genet , vol.23 , pp. 3024-3034
    • Zhang, X.1    Lin, H.2    Zhao, H.3    Hao, Y.4    Mort, M.5    Cooper, D.N.6    Zhou, Y.7    Liu, Y.8
  • 11
    • 0345306317 scopus 로고    scopus 로고
    • Patterns of nucleotide substitution, insertion and deletion in the human genome inferred from pseudogenes
    • Zhang Z, Gerstein M: Patterns of nucleotide substitution, insertion and deletion in the human genome inferred from pseudogenes. Nucleic Acids Res 2003, 31:5338-5348.
    • (2003) Nucleic Acids Res , vol.31 , pp. 5338-5348
    • Zhang, Z.1    Gerstein, M.2
  • 15
    • 84872814731 scopus 로고    scopus 로고
    • Analysis of insertion-deletion from deep-sequencing data: Software evaluation for optimal detection
    • Neuman JA, Isakov O, Shomron N: Analysis of insertion-deletion from deep-sequencing data: software evaluation for optimal detection. Brief Bioinform 2013, 14:46-55.
    • (2013) Brief Bioinform , vol.14 , pp. 46-55
    • Neuman, J.A.1    Isakov, O.2    Shomron, N.3
  • 16
    • 70350694443 scopus 로고    scopus 로고
    • Pindel: A pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads
    • Ye K, Schulz MH, Long Q, Apweiler R, Ning Z: Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads. Bioinforma Oxf Engl 2009, 25:2865-2871.
    • (2009) Bioinforma Oxf Engl , vol.25 , pp. 2865-2871
    • Ye, K.1    Schulz, M.H.2    Long, Q.3    Apweiler, R.4    Ning, Z.5
  • 18
    • 84874730465 scopus 로고    scopus 로고
    • Clipcrop: A tool for detecting structural variations with single-base resolution using soft-clipping information
    • Suzuki S, Yasuda T, Shiraishi Y, Miyano S, Nagasaki M: ClipCrop: a tool for detecting structural variations with single-base resolution using soft-clipping information. BMC Bioinformatics 2011, 12(Suppl 14):S7.
    • (2011) BMC Bioinformatics , vol.12 , pp. S7
    • Suzuki, S.1    Yasuda, T.2    Shiraishi, Y.3    Miyano, S.4    Nagasaki, M.5
  • 19
    • 84893840600 scopus 로고    scopus 로고
    • Understanding the limitations of next generation sequencing informatics, an approach to clinical pipeline validation using artificial data sets
    • Daber R, Sukhadia S, Morrissette JJD: Understanding the limitations of next generation sequencing informatics, an approach to clinical pipeline validation using artificial data sets. Cancer Genet 2013, 206:441-448.
    • (2013) Cancer Genet , vol.206 , pp. 441-448
    • Daber, R.1    Sukhadia, S.2    Morrissette, J.J.D.3
  • 21
    • 84989301139 scopus 로고    scopus 로고
    • version 2.3-9 [
    • The GATK Guidebook version 2.3-9 [http://www.broadinstitute.org/gatk/pdfdocs/GATK-GuideBook-2.3-9.pdf].
    • The GATK Guidebook
  • 23
    • 84905576523 scopus 로고    scopus 로고
    • Wgs500 consortium, wilkie aom, mcvean g, lunter g: Integrating mapping-, assembly-And haplotype-based approaches for calling variants in clinical sequencing applications
    • Rimmer A, Phan H, Mathieson I, Iqbal Z, Twigg SRF, WGS500 Consortium, Wilkie AOM, McVean G, Lunter G: Integrating mapping-, assembly-And haplotype-based approaches for calling variants in clinical sequencing applications. Nat Genet 2014, 46:912-918.
    • (2014) Nat Genet , vol.46 , pp. 912-918
    • Rimmer, A.1    Phan, H.2    Mathieson, I.3    Iqbal, Z.4    Twigg, S.R.F.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.