Watson CM - Search Results

1

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.

2

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

3

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.

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

GeneTIER: prioritization of candidate disease genes using tissue-specific gene expression profiles.

Antanaviciute A, Daly C, Crinnion LA, Markham AF, Watson CM, Bonthron DT, Carr IM. Antanaviciute A, et al. Among authors: watson cm. Bioinformatics. 2015 Aug 15;31(16):2728-35. doi: 10.1093/bioinformatics/btv196. Epub 2015 Apr 9. Bioinformatics. 2015. PMID: 25861967 Free PMC article.

9

Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data.

Watson CM, Crinnion LA, Gurgel-Gianetti J, Harrison SM, Daly C, Antanavicuite A, Lascelles C, Markham AF, Pena SD, Bonthron DT, Carr IM. Watson CM, et al. Hum Mutat. 2015 Sep;36(9):823-30. doi: 10.1002/humu.22818. Epub 2015 Jul 22. Hum Mutat. 2015. PMID: 26037133 Free PMC article.

10

OVA: integrating molecular and physical phenotype data from multiple biomedical domain ontologies with variant filtering for enhanced variant prioritization.

Antanaviciute A, Watson CM, Harrison SM, Lascelles C, Crinnion L, Markham AF, Bonthron DT, Carr IM. Antanaviciute A, et al. Among authors: watson cm. Bioinformatics. 2015 Dec 1;31(23):3822-9. doi: 10.1093/bioinformatics/btv473. Epub 2015 Aug 12. Bioinformatics. 2015. PMID: 26272982 Free PMC article.

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