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The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research.
Salgado D, Armean IM, Baudis M, Beltran S, Capella-Gutierrez S, Carvalho-Silva D, Dominguez Del Angel V, Dopazo J, Furlong LI, Gao B, Garcia L, Gerloff D, Gut I, Gyenesei A, Habermann N, Hancock JM, Hanauer M, Hovig E, Johansson LF, Keane T, Korbel J, Lauer KB, Laurie S, Leskošek B, Lloyd D, Marques-Bonet T, Mei H, Monostory K, Piñero J, Poterlowicz K, Rath A, Samarakoon P, Sanz F, Saunders G, Sie D, Swertz MA, Tsukanov K, Valencia A, Vidak M, Yenyxe González C, Ylstra B, Béroud C. Salgado D, et al. Among authors: sie d. F1000Res. 2020 Oct 13;9:ELIXIR-1229. doi: 10.12688/f1000research.24887.1. eCollection 2020. F1000Res. 2020. PMID: 34367618 Free PMC article.
DNA copy number analysis of fresh and formalin-fixed specimens by shallow whole-genome sequencing with identification and exclusion of problematic regions in the genome assembly.
Scheinin I, Sie D, Bengtsson H, van de Wiel MA, Olshen AB, van Thuijl HF, van Essen HF, Eijk PP, Rustenburg F, Meijer GA, Reijneveld JC, Wesseling P, Pinkel D, Albertson DG, Ylstra B. Scheinin I, et al. Among authors: sie d. Genome Res. 2014 Dec;24(12):2022-32. doi: 10.1101/gr.175141.114. Epub 2014 Sep 18. Genome Res. 2014. PMID: 25236618 Free PMC article.
Genomic profiling of stage II and III colon cancers reveals APC mutations to be associated with survival in stage III colon cancer patients.
van den Broek E, Krijgsman O, Sie D, Tijssen M, Mongera S, van de Wiel MA, Belt EJ, den Uil SH, Bril H, Stockmann HB, Ylstra B, Carvalho B, Meijer GA, Fijneman RJ. van den Broek E, et al. Among authors: sie d. Oncotarget. 2016 Nov 8;7(45):73876-73887. doi: 10.18632/oncotarget.12510. Oncotarget. 2016. PMID: 27729614 Free PMC article.
Clonality analysis of pulmonary tumors by genome-wide copy number profiling.
Vincenten JPL, van Essen HF, Lissenberg-Witte BI, Bulkmans NWJ, Krijgsman O, Sie D, Eijk PP, Smit EF, Ylstra B, Thunnissen E. Vincenten JPL, et al. Among authors: sie d. PLoS One. 2019 Oct 16;14(10):e0223827. doi: 10.1371/journal.pone.0223827. eCollection 2019. PLoS One. 2019. PMID: 31618260 Free PMC article.
PCR-Free Shallow Whole Genome Sequencing for Chromosomal Copy Number Detection from Plasma of Cancer Patients Is an Efficient Alternative to the Conventional PCR-Based Approach.
Beagan JJ, Drees EEE, Stathi P, Eijk PP, Meulenbroeks L, Kessler F, Middeldorp JM, Pegtel DM, Zijlstra JM, Sie D, Heideman DAM, Thunnissen E, Smit L, de Jong D, Mouliere F, Ylstra B, Roemer MGM, van Dijk E. Beagan JJ, et al. Among authors: sie d. J Mol Diagn. 2021 Nov;23(11):1553-1563. doi: 10.1016/j.jmoldx.2021.08.008. Epub 2021 Aug 26. J Mol Diagn. 2021. PMID: 34454114 Free article.
60 results