| [1] |
AJAY S S,PARKER S C,ABAAN H O,et al.Accurate and comprehensive sequencing of personal genomes[J]. Genome Res,2011,21(9):1498-1505.
|
| [2] |
NEWMAN A M,BRATMAN S V,TO J,et al.An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage[J]. Nat Med,2014,20(5):548-554.
|
| [3] |
Optimizing coverage for targeted resequencing[EB/OL].(2014-11-19)[2016-01-01] ,2014-11-19.
|
| [4] |
CLARK M J,CHEN R,LAM H Y,et al.Performance comparison of exome DNA sequencing tech-nologies[J]. Nat Biotechnol,2011,29(10):908-914.
|
| [5] |
ZHANG G,WANG J,YANG J,et al.Comparison and evaluation of two exome capture kits and sequencing platforms for variant calling[J]. BMC Genomics,2015,16:581.
|
| [6] |
LELIEVELD S H,SPIELMANN M,MUNDLOS S,et al.Comparison of exome and genome sequencing technologies for the complete capture of protein-coding regions[J]. Hum Mutat,2015,36(8):815-822.
|
| [7] |
SULONEN A M,ELLONEN P,ALMUSA H,et al.Comparison of solution-based exome capture methods for next generation sequencing[J]. Genome Biol,2011,12(9):R94.
|
| [8] |
WARDEN C D,ADAMSON A W,NEUHAUSEN S L,et al.Detailed comparison of two popular variant calling packages for exome and targeted exon studies[J]. Peer J,2014,2:e600.
|
| [9] |
SHANG J,ZHU F,VONGSANGNAK W,et al.Evaluation and comparison of multiple aligners for next-generation sequencing data analysis[J]. Biomed Res Int,2014,2014:309650.
|
| [10] |
HWANG S,KIM E,LEE I,et al.Systematic comparison of variant calling pipelines using gold standard personal exome variants[J]. Sci Rep,2015,5:17875.
|
| [11] |
MIELCZAREK M,SZYDA J.Review of alignment and SNP calling algorithms for next-generation sequencing data[J]. J Appl Genet,2016,57(1):71-79.
|
| [12] |
PABINGER S,DANDER A,FISCHER M,et al.A survey of tools for variant analysis of next-generation genome sequencing data[J]. Brief Bioinform,2014,15(2):256-278.
|
| [13] |
LI Y,ZHANG Z,LIU F,et al.Performance comparison and evaluation of software tools for microRNA deep-sequencing data analysis[J]. Nucleic Acids Res,2012,40(10):4298-4305.
|
| [14] |
CORNISH A,GUDA C.A comparison of variant calling pipelines using genome in a bottle as a reference[J]. Biomed Res Int,2015,2015:456479.
|
| [15] |
LUCAS A L,FRADO L E,HWANG C,et al.BRCA1 and BRCA2 germline mutations are frequently demonstrated in both high-risk pancreatic cancer screening and pancreatic cancer cohorts[J]. Cancer,2014,120(13):1960-1967.
|
| [16] |
KANDOTH C,MCLELLAN M D,VANDIN F,et al.Mutational landscape and significance across 12 major cancer types[J]. Nature,2013,502(7471):333-339.
|
| [17] |
GRANT R C,SELANDER I,CONNOR A A,et al.Prevalence of germline mutations in cancer pre-disposition genes in patients with pancreatic cancer[J]. Gastroenterology,2015,148(3):556-564.
|
| [18] |
BELL D W,GORE I,OKIMOTO R A,et al.Inherited susceptibility to lung cancer may be associated with the T790M drug resistance mutation in EGFR[J]. Nat Genet,2005,37(12):1315-1316.
|
| [19] |
PRUDKIN L,TANG X,WISTUBA I I.Germ-line and somatic presentations of the EGFR T790M mutation in lung cancer[J]. J Thorac Oncol,2009,4(1):139-141.
|
| [20] |
RICHARDS S,AZIZ N,BALE S,et al.Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology[J]. Genet Med,2015,17(5):405-424.
|
| [21] |
SUKHAI M A,CRADDOCK K J,THOMAS M,et al.A classification system for clinical relevance of somatic variants identified in molecular profiling of cancer[J]. Genet Med,2016,18(2):128-136.
|
| [22] |
DIENSTMANN R,DONG F,BORGER D,et al.Standardized decision support in next generation sequencing reports of somatic cancer variants[J]. Mol Oncol,2014,8(5):859-873.
|
| [23] |
FRAMPTON G M,FICHTENHOLTZ A,OTTO G A,et al.Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing[J]. Nat Biotechnol,2013,31(11):1023-1031.
|
