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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: tothill rw. PLoS One. 2014 Apr 21;9(4):e95217. doi: 10.1371/journal.pone.0095217. eCollection 2014. PLoS One. 2014. PMID: 24752294 Free PMC article.
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: tothill rw. 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. Among authors: tothill rw. 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.
BRAF/NRAS wild-type melanomas have a high mutation load correlating with histologic and molecular signatures of UV damage.
Mar VJ, Wong SQ, Li J, Scolyer RA, McLean C, Papenfuss AT, Tothill RW, Kakavand H, Mann GJ, Thompson JF, Behren A, Cebon JS, Wolfe R, Kelly JW, Dobrovic A, McArthur GA. Mar VJ, et al. Among authors: tothill rw. Clin Cancer Res. 2013 Sep 1;19(17):4589-98. doi: 10.1158/1078-0432.CCR-13-0398. Epub 2013 Jul 5. Clin Cancer Res. 2013. PMID: 23833303
Next-generation sequence analysis of cancer xenograft models.
Rossello FJ, Tothill RW, Britt K, Marini KD, Falzon J, Thomas DM, Peacock CD, Marchionni L, Li J, Bennett S, Tantoso E, Brown T, Chan P, Martelotto LG, Watkins DN. Rossello FJ, et al. Among authors: tothill rw. PLoS One. 2013 Sep 26;8(9):e74432. doi: 10.1371/journal.pone.0074432. eCollection 2013. PLoS One. 2013. PMID: 24086345 Free PMC article.
77 results