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Items: 1 to 20 of 317

1.

Analytical validation of whole exome and whole genome sequencing for clinical applications.

Linderman MD, Brandt T, Edelmann L, Jabado O, Kasai Y, Kornreich R, Mahajan M, Shah H, Kasarskis A, Schadt EE.

BMC Med Genomics. 2014 Apr 23;7:20. doi: 10.1186/1755-8794-7-20.

2.

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants.

Belkadi A, Bolze A, Itan Y, Cobat A, Vincent QB, Antipenko A, Shang L, Boisson B, Casanova JL, Abel L.

Proc Natl Acad Sci U S A. 2015 Apr 28;112(17):5473-8. doi: 10.1073/pnas.1418631112. Epub 2015 Mar 31.

3.

Archived neonatal dried blood spot samples can be used for accurate whole genome and exome-targeted next-generation sequencing.

Hollegaard MV, Grauholm J, Nielsen R, Grove J, Mandrup S, Hougaard DM.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):65-72. doi: 10.1016/j.ymgme.2013.06.004. Epub 2013 Jun 13.

PMID:
23830478
4.

A practical method to detect SNVs and indels from whole genome and exome sequencing data.

Shigemizu D, Fujimoto A, Akiyama S, Abe T, Nakano K, Boroevich KA, Yamamoto Y, Furuta M, Kubo M, Nakagawa H, Tsunoda T.

Sci Rep. 2013;3:2161. doi: 10.1038/srep02161.

5.

Variant detection sensitivity and biases in whole genome and exome sequencing.

Meynert AM, Ansari M, FitzPatrick DR, Taylor MS.

BMC Bioinformatics. 2014 Jul 19;15:247. doi: 10.1186/1471-2105-15-247.

6.

Comparison and evaluation of two exome capture kits and sequencing platforms for variant calling.

Zhang G, Wang J, Yang J, Li W, Deng Y, Li J, Huang J, Hu S, Zhang B.

BMC Genomics. 2015 Aug 5;16:581. doi: 10.1186/s12864-015-1796-6.

7.

Concurrent exome-targeted next-generation sequencing and single nucleotide polymorphism array to identify the causative genetic aberrations of isolated Mayer-Rokitansky-Küster-Hauser syndrome.

Chen MJ, Wei SY, Yang WS, Wu TT, Li HY, Ho HN, Yang YS, Chen PL.

Hum Reprod. 2015 Jul;30(7):1732-42. doi: 10.1093/humrep/dev095. Epub 2015 Apr 29.

PMID:
25924657
8.

Inconsistency and features of single nucleotide variants detected in whole exome sequencing versus transcriptome sequencing: A case study in lung cancer.

O'Brien TD, Jia P, Xia J, Saxena U, Jin H, Vuong H, Kim P, Wang Q, Aryee MJ, Mino-Kenudson M, Engelman JA, Le LP, Iafrate AJ, Heist RS, Pao W, Zhao Z.

Methods. 2015 Jul 15;83:118-27. doi: 10.1016/j.ymeth.2015.04.016. Epub 2015 Apr 23.

9.

Achieving high-sensitivity for clinical applications using augmented exome sequencing.

Patwardhan A, Harris J, Leng N, Bartha G, Church DM, Luo S, Haudenschild C, Pratt M, Zook J, Salit M, Tirch J, Morra M, Chervitz S, Li M, Clark M, Garcia S, Chandratillake G, Kirk S, Ashley E, Snyder M, Altman R, Bustamante C, Butte AJ, West J, Chen R.

Genome Med. 2015 Jul 16;7:71. doi: 10.1186/s13073-015-0197-4. eCollection 2015.

10.

Reducing INDEL calling errors in whole genome and exome sequencing data.

Fang H, Wu Y, Narzisi G, O'Rawe JA, Barrón LT, Rosenbaum J, Ronemus M, Iossifov I, Schatz MC, Lyon GJ.

Genome Med. 2014 Oct 28;6(10):89. doi: 10.1186/s13073-014-0089-z. eCollection 2014.

11.

Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory.

Strom SP, Lee H, Das K, Vilain E, Nelson SF, Grody WW, Deignan JL.

Genet Med. 2014 Jul;16(7):510-5. doi: 10.1038/gim.2013.183. Epub 2014 Jan 9.

12.

Optimized detection of insertions/deletions (INDELs) in whole-exome sequencing data.

Kim BY, Park JH, Jo HY, Koo SK, Park MH.

PLoS One. 2017 Aug 9;12(8):e0182272. doi: 10.1371/journal.pone.0182272. eCollection 2017.

13.

Performance comparison of exome DNA sequencing technologies.

Clark MJ, Chen R, Lam HY, Karczewski KJ, Chen R, Euskirchen G, Butte AJ, Snyder M.

Nat Biotechnol. 2011 Sep 25;29(10):908-14. doi: 10.1038/nbt.1975.

14.

Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions.

Lelieveld SH, Spielmann M, Mundlos S, Veltman JA, Gilissen C.

Hum Mutat. 2015 Aug;36(8):815-22. doi: 10.1002/humu.22813. Epub 2015 Jun 11.

15.

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing.

O'Rawe J, Jiang T, Sun G, Wu Y, Wang W, Hu J, Bodily P, Tian L, Hakonarson H, Johnson WE, Wei Z, Wang K, Lyon GJ.

Genome Med. 2013 Mar 27;5(3):28. doi: 10.1186/gm432. eCollection 2013.

16.

Medical implications of technical accuracy in genome sequencing.

Goldfeder RL, Priest JR, Zook JM, Grove ME, Waggott D, Wheeler MT, Salit M, Ashley EA.

Genome Med. 2016 Mar 2;8(1):24. doi: 10.1186/s13073-016-0269-0.

17.

Variant callers for next-generation sequencing data: a comparison study.

Liu X, Han S, Wang Z, Gelernter J, Yang BZ.

PLoS One. 2013 Sep 27;8(9):e75619. doi: 10.1371/journal.pone.0075619. eCollection 2013.

18.

Critical points for an accurate human genome analysis.

White SJ, Laros JFJ, Bakker E, Cambon-Thomsen A, Eden M, Leonard S, Lochmüller H, Matthijs G, Mattocks C, Patton S, Payne K, Scheffer H, Souche E, Thomassen E, Thompson R, Traeger-Synodinos J, Van Vooren S, Janssen B, den Dunnen JT.

Hum Mutat. 2017 Aug;38(8):912-921. doi: 10.1002/humu.23238. Epub 2017 Jun 16. Review.

PMID:
28471515
19.

Impact of post-alignment processing in variant discovery from whole exome data.

Tian S, Yan H, Kalmbach M, Slager SL.

BMC Bioinformatics. 2016 Oct 3;17(1):403.

20.

The Use of Non-Variant Sites to Improve the Clinical Assessment of Whole-Genome Sequence Data.

Ferrarini A, Xumerle L, Griggio F, Garonzi M, Cantaloni C, Centomo C, Vargas SM, Descombes P, Marquis J, Collino S, Franceschi C, Garagnani P, Salisbury BA, Harvey JM, Delledonne M.

PLoS One. 2015 Jul 6;10(7):e0132180. doi: 10.1371/journal.pone.0132180. eCollection 2015.

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