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Volumn 17, Issue 4, 2015, Pages 456-461

Confirming variants in next-generation sequencing panel testing by sanger sequencing

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BIOINFORMATICS; CLINICAL LABORATORY; COMPARATIVE STUDY; GENETIC VARIABILITY; HUMAN; INDEL MUTATION; MEDICAL GENETICS; NEXT GENERATION SEQUENCING; PRACTICE GUIDELINE; QUALITY CONTROL; SANGER SEQUENCING; SINGLE NUCLEOTIDE POLYMORPHISM; DNA SEQUENCE; GENETICS; GENOMICS; HIGH THROUGHPUT SEQUENCING; MOLECULAR DIAGNOSIS; PROCEDURES; STANDARDS;

EID: 84931337923     PISSN: 15251578     EISSN: 19437811     Source Type: Journal    
DOI: 10.1016/j.jmoldx.2015.03.004     Document Type: Article
Times cited : (99)

References (12)
  • 1
    • 84896323921 scopus 로고    scopus 로고
    • Analysis and annotation of whole-genome or whole-exome sequencing-derived variants for clinical diagnosis
    • Unit 9.24
    • E.A. Worthey Analysis and annotation of whole-genome or whole-exome sequencing-derived variants for clinical diagnosis Curr Protoc Hum Genet 79 2013 Unit 9.24
    • (2013) Curr Protoc Hum Genet , vol.79
    • Worthey, E.A.1
  • 5
    • 84903284152 scopus 로고    scopus 로고
    • Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory
    • S.P. Strom, H. Lee, K. Das, E. Vilain, S.F. Nelson, W.W. Grody, and J.L. Deignan Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory Genet Med 16 2014 510 515
    • (2014) Genet Med , vol.16 , pp. 510-515
    • Strom, S.P.1    Lee, H.2    Das, K.3    Vilain, E.4    Nelson, S.F.5    Grody, W.W.6    Deignan, J.L.7
  • 7
    • 77951226627 scopus 로고    scopus 로고
    • The Sanger FASTQ file format for sequences with quality scores, and the Solexa/Illumina FASTQ variants
    • P.J. Cock, C.J. Fields, N. Goto, M.L. Heuer, and P.M. Rice The Sanger FASTQ file format for sequences with quality scores, and the Solexa/Illumina FASTQ variants Nucleic Acids Res 38 2010 1767 1771
    • (2010) Nucleic Acids Res , vol.38 , pp. 1767-1771
    • Cock, P.J.1    Fields, C.J.2    Goto, N.3    Heuer, M.L.4    Rice, P.M.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.