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JointSNVMix: a probabilistic model for accurate detection of somatic mutations in normal/tumour paired next-generation sequencing data.
Roth A, Ding J, Morin R, Crisan A, Ha G, Giuliany R, Bashashati A, Hirst M, Turashvili G, Oloumi A, Marra MA, Aparicio S, Shah SP. Roth A, et al. Among authors: aparicio s. Bioinformatics. 2012 Apr 1;28(7):907-13. doi: 10.1093/bioinformatics/bts053. Epub 2012 Jan 27. Bioinformatics. 2012. PMID: 22285562 Free PMC article.
Mutational evolution in a lobular breast tumour profiled at single nucleotide resolution.
Shah SP, Morin RD, Khattra J, Prentice L, Pugh T, Burleigh A, Delaney A, Gelmon K, Guliany R, Senz J, Steidl C, Holt RA, Jones S, Sun M, Leung G, Moore R, Severson T, Taylor GA, Teschendorff AE, Tse K, Turashvili G, Varhol R, Warren RL, Watson P, Zhao Y, Caldas C, Huntsman D, Hirst M, Marra MA, Aparicio S. Shah SP, et al. Among authors: aparicio s. Nature. 2009 Oct 8;461(7265):809-13. doi: 10.1038/nature08489. Nature. 2009. PMID: 19812674
Somatic mutations altering EZH2 (Tyr641) in follicular and diffuse large B-cell lymphomas of germinal-center origin.
Morin RD, Johnson NA, Severson TM, Mungall AJ, An J, Goya R, Paul JE, Boyle M, Woolcock BW, Kuchenbauer F, Yap D, Humphries RK, Griffith OL, Shah S, Zhu H, Kimbara M, Shashkin P, Charlot JF, Tcherpakov M, Corbett R, Tam A, Varhol R, Smailus D, Moksa M, Zhao Y, Delaney A, Qian H, Birol I, Schein J, Moore R, Holt R, Horsman DE, Connors JM, Jones S, Aparicio S, Hirst M, Gascoyne RD, Marra MA. Morin RD, et al. Among authors: aparicio s. Nat Genet. 2010 Feb;42(2):181-5. doi: 10.1038/ng.518. Epub 2010 Jan 17. Nat Genet. 2010. PMID: 20081860 Free PMC article.
SNVMix: predicting single nucleotide variants from next-generation sequencing of tumors.
Goya R, Sun MG, Morin RD, Leung G, Ha G, Wiegand KC, Senz J, Crisan A, Marra MA, Hirst M, Huntsman D, Murphy KP, Aparicio S, Shah SP. Goya R, et al. Among authors: aparicio s. Bioinformatics. 2010 Mar 15;26(6):730-6. doi: 10.1093/bioinformatics/btq040. Epub 2010 Feb 3. Bioinformatics. 2010. PMID: 20130035 Free PMC article.
High-throughput microfluidic single-cell RT-qPCR.
White AK, VanInsberghe M, Petriv OI, Hamidi M, Sikorski D, Marra MA, Piret J, Aparicio S, Hansen CL. White AK, et al. Among authors: aparicio s. Proc Natl Acad Sci U S A. 2011 Aug 23;108(34):13999-4004. doi: 10.1073/pnas.1019446108. Epub 2011 Aug 1. Proc Natl Acad Sci U S A. 2011. PMID: 21808033 Free PMC article.
Mll5 is required for normal spermatogenesis.
Yap DB, Walker DC, Prentice LM, McKinney S, Turashvili G, Mooslehner-Allen K, de Algara TR, Fee J, de Tassigny Xd, Colledge WH, Aparicio S. Yap DB, et al. Among authors: aparicio s. PLoS One. 2011;6(11):e27127. doi: 10.1371/journal.pone.0027127. Epub 2011 Nov 1. PLoS One. 2011. PMID: 22069496 Free PMC article.
The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups.
Curtis C, Shah SP, Chin SF, Turashvili G, Rueda OM, Dunning MJ, Speed D, Lynch AG, Samarajiwa S, Yuan Y, Gräf S, Ha G, Haffari G, Bashashati A, Russell R, McKinney S; METABRIC Group; Langerød A, Green A, Provenzano E, Wishart G, Pinder S, Watson P, Markowetz F, Murphy L, Ellis I, Purushotham A, Børresen-Dale AL, Brenton JD, Tavaré S, Caldas C, Aparicio S. Curtis C, et al. Among authors: aparicio s. Nature. 2012 Apr 18;486(7403):346-52. doi: 10.1038/nature10983. Nature. 2012. PMID: 22522925 Free PMC article.
The landscape of cancer genes and mutational processes in breast cancer.
Stephens PJ, Tarpey PS, Davies H, Van Loo P, Greenman C, Wedge DC, Nik-Zainal S, Martin S, Varela I, Bignell GR, Yates LR, Papaemmanuil E, Beare D, Butler A, Cheverton A, Gamble J, Hinton J, Jia M, Jayakumar A, Jones D, Latimer C, Lau KW, McLaren S, McBride DJ, Menzies A, Mudie L, Raine K, Rad R, Chapman MS, Teague J, Easton D, Langerød A; Oslo Breast Cancer Consortium (OSBREAC); Lee MT, Shen CY, Tee BT, Huimin BW, Broeks A, Vargas AC, Turashvili G, Martens J, Fatima A, Miron P, Chin SF, Thomas G, Boyault S, Mariani O, Lakhani SR, van de Vijver M, van 't Veer L, Foekens J, Desmedt C, Sotiriou C, Tutt A, Caldas C, Reis-Filho JS, Aparicio SA, Salomon AV, Børresen-Dale AL, Richardson AL, Campbell PJ, Futreal PA, Stratton MR. Stephens PJ, et al. Among authors: aparicio sa. Nature. 2012 May 16;486(7403):400-4. doi: 10.1038/nature11017. Nature. 2012. PMID: 22722201 Free PMC article.
469 results