41 - 50 out of 88Page size: 10
  1. 2015

  2. Data intensive analysis approaches in genomics and proteomics: ELIXIR initiatives Extended abstract of an invited talk

    Kanapin, A. A., 2015, 17th International Conference on Data Analytics and Management in Data Intensive Domains, DAMDID/RCDL 2015. p. 257-259 3 p. (CEUR Workshop Proceedings; vol. 1536).

    Research output: Chapter in Book/Report/Conference proceeding › Conference contribution › peer-review

  3. Disruption of SF3B1 results in deregulated expression and splicing of key genes and pathways in myelodysplastic syndrome hematopoietic stem and progenitor cells

    Dolatshad, H., Pellagatti, A., Fernandez-Mercado, M., Yip, B. H., Malcovati, L., Attwood, M., Przychodzen, B., Sahgal, N., Kanapin, A. A. & Lockstone, H., 2015, In: Leukemia. 29, 5, p. 1092 1 p.

    Research output: Contribution to journal › Article › peer-review

  4. Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

    Taylor, J. C., Martin, H. C., Lise, S., Broxholme, J., Cazier, J-B., Rimmer, A., Kanapin, A., Lunter, G., Fiddy, S. & Allan, C., 2015, In: Nature Genetics. 47, 7, p. 717 1 p.

    Research output: Contribution to journal › Article › peer-review

  5. The interaction between heat shock response and small RNA biogenesis in Drosophila melanogaster

    Funikov, S., Ryazansky, S., Kanapin, A., Zelentsova, E., Evgen'ev, M. & Zatsepina, O., 2015, In: FEBS Journal. 282, p. 220-220 1 p.

    Research output: Contribution to journal › Meeting Abstract › peer-review

  6. 2014

  7. Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden

    Cazier, J. B., Rao, S. R., McLean, C. M., Walker, A. L., Wright, B. J., Jaeger, E. E. M., Kartsonaki, C., Marsden, L., Yau, C., Camps, C., Kaisaki, P., Taylor, J., Catto, J. W., Tomlinson, I. P. M., Kiltie, A. E., Hamdy, F. C., Allan, C., Attar, M., Bell, J., Bentley, D. & 30 others, Broxholme, J., Buck, D., Cazier, J. B., Copley, R., Cornall, R., Donnelly, P., Fiddy, S., Green, A., Gregory, L., Grocock, R., Hatton, E., Holmes, C., Hughes, L., Humburg, P., Humphray, S., Kanapin, A., Kingsbury, Z., Knight, J., Lamble, S., Lise, S., Lonie, L., Lunter, G., Martin, H., Murray, L., McCarthy, D., McVean, G., Pagnamenta, A., Piazza, P., Polanco, G. & Ratcliffe, P., 29 Apr 2014, In: Nature Communications. 5, 1 p., 3756.

    Research output: Contribution to journal › Article › peer-review

  8. Choice of transcripts and software has a large effect on variant annotation

    McCarthy, D. J., Humburg, P., Kanapin, A., Rivas, M. A., Gaulton, K., Cazier, J-B. & Donnelly, P., 2014, In: Genome Medicine. 6, 3, p. 26 1 p.

    Research output: Contribution to journal › Article › peer-review

  9. Unfixed endogenous retroviral insertions in the human population

    Marchi, E., Kanapin, A., Magiorkinis, G. & Belshaw, R., 2014, In: Journal of Virology. p. JVI-00919

    Research output: Contribution to journal › Article › peer-review

  10. 2013

  11. Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

    Sharma, V. P., Fenwick, A. L., Brockop, M. S., Mcgowan, S. J., Goos, J. A. C., Hoogeboom, A. J. M., Brady, A. F., Jeelani, N. O., Lynch, S. A., Mulliken, J. B., Murray, D. J., Phipps, J. M., Sweeney, E., Tomkins, S. E., Wilson, L. C., Bennett, S., Cornall, R. J., Broxholme, J., Kanapin, A., Johnson, D. & 6 others, Wall, S. A., Van Der Spek, P. J., Mathijssen, I. M. J., Maxson, R. E., Twigg, S. R. F. & Wilkie, A. O. M., 1 Mar 2013, In: Nature Genetics. 45, 3, p. 304-307 4 p.

    Research output: Contribution to journal › Article › peer-review

  12. Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

    UK IBD Genetics Consortium and COLORS in IBD and Oxford IBD cohort study investigators and WGS500 Consortium, 1 Feb 2013, In: Nature Genetics. 45, 2, p. 136-143 8 p.

    Research output: Contribution to journal › Article › peer-review

  13. A Computational Framework for De Novo Discovery of RNA Editing events from RNASeq data

    Samsonova, AA., Kanapin, A., Berezin, S. & Perrimon, N., 2013, In: FEBS Journal. 280, 1, p. 547 1 p.

    Research output: Contribution to journal › Article › peer-review

Previous 1 2 3 4 5 6 7 8 9 Next

ID: 8943819