Ruark E - Search Results

1

Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients.

George A, Riddell D, Seal S, Talukdar S, Mahamdallie S, Ruark E, Cloke V, Slade I, Kemp Z, Gore M, Strydom A, Banerjee S, Hanson H, Rahman N. George A, et al. Among authors: ruark e. Sci Rep. 2016 Jul 13;6:29506. doi: 10.1038/srep29506. Sci Rep. 2016. PMID: 27406733 Free PMC article.

2

CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting.

Münz M, Ruark E, Renwick A, Ramsay E, Clarke M, Mahamdallie S, Cloke V, Seal S, Strydom A, Lunter G, Rahman N. Münz M, et al. Among authors: ruark e. Genome Med. 2015 Jul 28;7(1):76. doi: 10.1186/s13073-015-0195-6. Genome Med. 2015. PMID: 26315209 Free PMC article.

3

The ICR639 CPG NGS validation series: A resource to assess analytical sensitivity of cancer predisposition gene testing.

Mahamdallie S, Ruark E, Holt E, Poyastro-Pearson E, Renwick A, Strydom A, Seal S, Rahman N. Mahamdallie S, et al. Among authors: ruark e. Wellcome Open Res. 2018 Jun 12;3:68. doi: 10.12688/wellcomeopenres.14594.1. eCollection 2018. Wellcome Open Res. 2018. PMID: 30175241 Free PMC article.

4

OpEx - a validated, automated pipeline optimised for clinical exome sequence analysis.

Ruark E, Münz M, Clarke M, Renwick A, Ramsay E, Elliott A, Seal S, Lunter G, Rahman N. Ruark E, et al. Sci Rep. 2016 Aug 3;6:31029. doi: 10.1038/srep31029. Sci Rep. 2016. PMID: 27485037 Free PMC article.

5

Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN.

Fowler A, Mahamdallie S, Ruark E, Seal S, Ramsay E, Clarke M, Uddin I, Wylie H, Strydom A, Lunter G, Rahman N. Fowler A, et al. Among authors: ruark e. Wellcome Open Res. 2016 Nov 25;1:20. doi: 10.12688/wellcomeopenres.10069.1. Wellcome Open Res. 2016. PMID: 28459104 Free PMC article.

6

The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data.

Mahamdallie S, Ruark E, Yost S, Ramsay E, Uddin I, Wylie H, Elliott A, Strydom A, Renwick A, Seal S, Rahman N. Mahamdallie S, et al. Among authors: ruark e. Wellcome Open Res. 2017 May 26;2:35. doi: 10.12688/wellcomeopenres.11689.1. eCollection 2017. Wellcome Open Res. 2017. PMID: 28630945 Free PMC article.

7

Mutations in the transcriptional repressor REST predispose to Wilms tumor.

Mahamdallie SS, Hanks S, Karlin KL, Zachariou A, Perdeaux ER, Ruark E, Shaw CA, Renwick A, Ramsay E, Yost S, Elliott A, Birch J, Capra M, Gray J, Hale J, Kingston J, Levitt G, McLean T, Sheridan E, Renwick A, Seal S, Stiller C, Sebire N, Westbrook TF, Rahman N. Mahamdallie SS, et al. Among authors: ruark e. Nat Genet. 2015 Dec;47(12):1471-4. doi: 10.1038/ng.3440. Epub 2015 Nov 9. Nat Genet. 2015. PMID: 26551668

8

CoverView: a sequence quality evaluation tool for next generation sequencing data.

Münz M, Mahamdallie S, Yost S, Rimmer A, Poyastro-Pearson E, Strydom A, Seal S, Ruark E, Rahman N. Münz M, et al. Among authors: ruark e. Wellcome Open Res. 2018 Apr 4;3:36. doi: 10.12688/wellcomeopenres.14306.1. eCollection 2018. Wellcome Open Res. 2018. PMID: 29881786 Free PMC article.

9

The Quality Sequencing Minimum (QSM): providing comprehensive, consistent, transparent next generation sequencing data quality assurance.

Mahamdallie S, Ruark E, Yost S, Münz M, Renwick A, Poyastro-Pearson E, Strydom A, Seal S, Rahman N. Mahamdallie S, et al. Among authors: ruark e. Wellcome Open Res. 2018 Apr 4;3:37. doi: 10.12688/wellcomeopenres.14307.1. eCollection 2018. Wellcome Open Res. 2018. PMID: 29992192 Free PMC article.

10

Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer.

Snape K, Ruark E, Tarpey P, Renwick A, Turnbull C, Seal S, Murray A, Hanks S, Douglas J, Stratton MR, Rahman N. Snape K, et al. Among authors: ruark e. Breast Cancer Res Treat. 2012 Jul;134(1):429-33. doi: 10.1007/s10549-012-2057-x. Epub 2012 Apr 18. Breast Cancer Res Treat. 2012. PMID: 22527104 Free PMC article.

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