Rahman N - Search Results

1

The ICR142 NGS validation series: a resource for orthogonal assessment of NGS analysis.

Ruark E, Renwick A, Clarke M, Snape K, Ramsay E, Elliott A, Hanks S, Strydom A, Seal S, Rahman N. Ruark E, et al. Among authors: rahman n. F1000Res. 2016 Mar 22;5:386. doi: 10.12688/f1000research.8219.2. eCollection 2016. F1000Res. 2016. PMID: 27158454 Free PMC article.

2

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: rahman n. 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.

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: rahman n. 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

The ICR1000 UK exome series: a resource of gene variation in an outbred population.

Ruark E, Münz M, Renwick A, Clarke M, Ramsay E, Hanks S, Mahamdallie S, Elliott A, Seal S, Strydom A, Gerton L, Rahman N. Ruark E, et al. Among authors: rahman n. F1000Res. 2015 Sep 22;4:883. doi: 10.12688/f1000research.7049.1. eCollection 2015. F1000Res. 2015. PMID: 26834991 Free PMC article.

5

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: rahman n. Genome Med. 2015 Jul 28;7(1):76. doi: 10.1186/s13073-015-0195-6. Genome Med. 2015. PMID: 26315209 Free PMC article.

6

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: rahman n. Wellcome Open Res. 2016 Nov 25;1:20. doi: 10.12688/wellcomeopenres.10069.1. Wellcome Open Res. 2016. PMID: 28459104 Free PMC article.

7

ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation series.

Ruark E, Holt E, Renwick A, Münz M, Wakeling M, Ellard S, Mahamdallie S, Yost S, Rahman N. Ruark E, et al. Among authors: rahman n. Wellcome Open Res. 2018 Oct 31;3:108. doi: 10.12688/wellcomeopenres.14754.2. eCollection 2018. Wellcome Open Res. 2018. PMID: 30483600 Free PMC article.

8

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. Among authors: rahman n. Sci Rep. 2016 Aug 3;6:31029. doi: 10.1038/srep31029. Sci Rep. 2016. PMID: 27485037 Free PMC article.

9

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.

Snape K, Hanks S, Ruark E, Barros-Núñez P, Elliott A, Murray A, Lane AH, Shannon N, Callier P, Chitayat D, Clayton-Smith J, Fitzpatrick DR, Gisselsson D, Jacquemont S, Asakura-Hay K, Micale MA, Tolmie J, Turnpenny PD, Wright M, Douglas J, Rahman N. Snape K, et al. Among authors: rahman n. Nat Genet. 2011 Jun;43(6):527-9. doi: 10.1038/ng.822. Epub 2011 May 8. Nat Genet. 2011. PMID: 21552266 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: rahman n. 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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