Watson CM - Search Results

1

Diagnosis of copy number variation by Illumina next generation sequencing is comparable in performance to oligonucleotide array comparative genomic hybridisation.

Hayes JL, Tzika A, Thygesen H, Berri S, Wood HM, Hewitt S, Pendlebury M, Coates A, Willoughby L, Watson CM, Rabbitts P, Roberts P, Taylor GR. Hayes JL, et al. Among authors: watson cm. Genomics. 2013 Sep;102(3):174-81. doi: 10.1016/j.ygeno.2013.04.006. Epub 2013 Apr 15. Genomics. 2013. PMID: 23598253 Free article.

2

Mutation detection by clonal sequencing of PCR amplicons and grouped read typing is applicable to clinical diagnostics.

Chambers PA, Stead LF, Morgan JE, Carr IM, Sutton KM, Watson CM, Crowe V, Dickinson H, Roberts P, Mulatero C, Seymour M, Markham AF, Waring PM, Quirke P, Taylor GR. Chambers PA, et al. Among authors: watson cm. Hum Mutat. 2013 Jan;34(1):248-54. doi: 10.1002/humu.22207. Epub 2012 Oct 11. Hum Mutat. 2013. PMID: 22915446

3

Simple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence data.

Carr IM, Morgan J, Watson C, Melnik S, Diggle CP, Logan CV, Harrison SM, Taylor GR, Pena SD, Markham AF, Alkuraya FS, Black GC, Ali M, Bonthron DT. Carr IM, et al. Hum Mutat. 2013 Jul;34(7):945-52. doi: 10.1002/humu.22322. Epub 2013 Apr 29. Hum Mutat. 2013. PMID: 23554237

4

Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.

Watson CM, Crinnion LA, Morgan JE, Harrison SM, Diggle CP, Adlard J, Lindsay HA, Camm N, Charlton R, Sheridan E, Bonthron DT, Taylor GR, Carr IM. Watson CM, et al. Hum Mutat. 2014 Apr;35(4):434-41. doi: 10.1002/humu.22490. Hum Mutat. 2014. PMID: 24307375 Free PMC article.

5

Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome.

Watson CM, Crinnion LA, Tzika A, Mills A, Coates A, Pendlebury M, Hewitt S, Harrison SM, Daly C, Roberts P, Carr IM, Sheridan EG, Bonthron DT. Watson CM, et al. Am J Med Genet A. 2014 Oct;164A(10):2649-55. doi: 10.1002/ajmg.a.36679. Epub 2014 Jul 16. Am J Med Genet A. 2014. PMID: 25045150 Free article.

6

Detection of somatic mutations in tumors using unaligned clonal sequencing data.

Sutton KM, Crinnion LA, Wallace D, Harrison S, Roberts P, Watson CM, Markham AF, Bonthron DT, Quirke P, Carr IM. Sutton KM, et al. Among authors: watson cm. Lab Invest. 2014 Oct;94(10):1173-83. doi: 10.1038/labinvest.2014.96. Epub 2014 Jul 28. Lab Invest. 2014. PMID: 25068661 Free article.

7

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.

Watson CM, El-Asrag M, Parry DA, Morgan JE, Logan CV, Carr IM, Sheridan E, Charlton R, Johnson CA, Taylor G, Toomes C, McKibbin M, Inglehearn CF, Ali M. Watson CM, et al. PLoS One. 2014 Aug 18;9(8):e104281. doi: 10.1371/journal.pone.0104281. eCollection 2014. PLoS One. 2014. PMID: 25133751 Free PMC article.

8

Towards a Next-Generation Sequencing Diagnostic Service for Tumour Genotyping: A Comparison of Panels and Platforms.

Burghel GJ, Hurst CD, Watson CM, Chambers PA, Dickinson H, Roberts P, Knowles MA. Burghel GJ, et al. Among authors: watson cm. Biomed Res Int. 2015;2015:478017. doi: 10.1155/2015/478017. Epub 2015 Aug 17. Biomed Res Int. 2015. PMID: 26351634 Free PMC article.

9

Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping.

Watson CM, Crinnion LA, Berry IR, Harrison SM, Lascelles C, Antanaviciute A, Charlton RS, Dobbie A, Carr IM, Bonthron DT. Watson CM, et al. BMC Med Genet. 2016 Jan 4;17:1. doi: 10.1186/s12881-015-0265-z. BMC Med Genet. 2016. PMID: 26729329 Free PMC article.

10

An alternative to array-based diagnostics: a prospectively recruited cohort, comparing arrayCGH to next-generation sequencing to evaluate foetal structural abnormalities.

Walker L, Watson CM, Hewitt S, Crinnion LA, Bonthron DT, Cohen KE. Walker L, et al. Among authors: watson cm. J Obstet Gynaecol. 2019 Apr;39(3):328-334. doi: 10.1080/01443615.2018.1522529. Epub 2019 Feb 3. J Obstet Gynaecol. 2019. PMID: 30714504 Free article.

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