Validation and assessment of variant calling pipelines for next-generation sequencing-Reference-Cited by-同舟云学术

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Validation and assessment of variant calling pipelines for next-generation sequencing

Published:2014-07-30 Issue:1 Volume:8 Page:
ISSN:1479-7364
Container-title:Human Genomics
language:en
Short-container-title:Hum Genomics

Author:

Pirooznia Mehdi,Kramer Melissa,Parla Jennifer,Goes Fernando S,Potash James B,McCombie W Richard,Zandi Peter P

Publisher

Springer Science and Business Media LLC

Subject

Drug Discovery,Genetics,Molecular Biology,Molecular Medicine

Link

https://link.springer.com/content/pdf/10.1186/1479-7364-8-14.pdf

Reference39 articles.

1. Hodges E, Xuan Z, Balija V, Kramer M, Molla MN, Smith SW, Middle CM, Rodesch MJ, Albert TJ, Hannon GJ, McCombie WR: Genome-wide in situ exon capture for selective resequencing. Nat Genet. 2007, 39 (12): 1522-1527.

2. Henson J, Tischler G, Ning Z: Next-generation sequencing and large genome assemblies. Pharmacogenomics. 2012, 13 (8): 901-915.

3. Ku CS, Cooper DN, Polychronakos C, Naidoo N, Wu M, Soong R: Exome sequencing: dual role as a discovery and diagnostic tool. Ann Neurol. 2012, 71 (1): 5-14.

4. Ross JS, Cronin M: Whole cancer genome sequencing by next-generation methods. Am J Clin Pathol. 2011, 136 (4): 527-539.

5. Ku CS, Naidoo N, Pawitan Y: Revisiting Mendelian disorders through exome sequencing. Hum Genet. 2011, 129 (4): 351-370.

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