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CONTRA: copy number analysis for targeted resequencing.
Li J, Lupat R, Amarasinghe KC, Thompson ER, Doyle MA, Ryland GL, Tothill RW, Halgamuge SK, Campbell IG, Gorringe KL. Li J, et al. Among authors: thompson er. Bioinformatics. 2012 May 15;28(10):1307-13. doi: 10.1093/bioinformatics/bts146. Epub 2012 Apr 2. Bioinformatics. 2012. PMID: 22474122 Free PMC article.
Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.
Thompson ER, Doyle MA, Ryland GL, Rowley SM, Choong DY, Tothill RW, Thorne H; kConFab; Barnes DR, Li J, Ellul J, Philip GK, Antill YC, James PA, Trainer AH, Mitchell G, Campbell IG. Thompson ER, et al. PLoS Genet. 2012 Sep;8(9):e1002894. doi: 10.1371/journal.pgen.1002894. Epub 2012 Sep 27. PLoS Genet. 2012. PMID: 23028338 Free PMC article.
Bioinformatics pipelines for targeted resequencing and whole-exome sequencing of human and mouse genomes: a virtual appliance approach for instant deployment.
Li J, Doyle MA, Saeed I, Wong SQ, Mar V, Goode DL, Caramia F, Doig K, Ryland GL, Thompson ER, Hunter SM, Halgamuge SK, Ellul J, Dobrovic A, Campbell IG, Papenfuss AT, McArthur GA, Tothill RW. Li J, et al. Among authors: thompson er. PLoS One. 2014 Apr 21;9(4):e95217. doi: 10.1371/journal.pone.0095217. eCollection 2014. PLoS One. 2014. PMID: 24752294 Free PMC article.
Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls.
Thompson ER, Gorringe KL, Rowley SM, Wong-Brown MW, McInerny S, Li N, Trainer AH, Devereux L, Doyle MA, Li J, Lupat R, Delatycki MB; LifePool Investigators; Mitchell G, James PA, Scott RJ, Campbell IG. Thompson ER, et al. Breast Cancer Res. 2015 Aug 19;17(1):111. doi: 10.1186/s13058-015-0627-7. Breast Cancer Res. 2015. PMID: 26283626 Free PMC article.
Copy number analysis of ductal carcinoma in situ with and without recurrence.
Gorringe KL, Hunter SM, Pang JM, Opeskin K, Hill P, Rowley SM, Choong DY, Thompson ER, Dobrovic A, Fox SB, Mann GB, Campbell IG. Gorringe KL, et al. Among authors: thompson er. Mod Pathol. 2015 Sep;28(9):1174-84. doi: 10.1038/modpathol.2015.75. Epub 2015 Jun 19. Mod Pathol. 2015. PMID: 26321097 Free article.
Detection of clinically relevant early genomic lesions in B-cell malignancies from circulating tumour DNA using a single hybridisation-based next generation sequencing assay.
Blombery PA, Ryland GL, Markham J, Guinto J, Wall M, McBean M, Jones K, Thompson ER, Cameron DL, Papenfuss AT, Prince MH, Dickinson M, Westerman DA. Blombery PA, et al. Among authors: thompson er. Br J Haematol. 2018 Oct;183(1):146-149. doi: 10.1111/bjh.14919. Epub 2017 Sep 7. Br J Haematol. 2018. PMID: 28880377 Free article. No abstract available.
Canary: an atomic pipeline for clinical amplicon assays.
Doig KD, Ellul J, Fellowes A, Thompson ER, Ryland G, Blombery P, Papenfuss AT, Fox SB. Doig KD, et al. Among authors: thompson er. BMC Bioinformatics. 2017 Dec 15;18(1):555. doi: 10.1186/s12859-017-1950-z. BMC Bioinformatics. 2017. PMID: 29246107 Free PMC article.
123 results