Dr Peter Causey-Freeman

Lecturer in Healthcare Sciences (Clinical Bioinformatics)

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  1. 2018
  2. Published

    hgvs: A Python package for manipulating sequence variants using HGVS nomenclature: 2018 Update

    Wang, M., Callenberg, K. M., Dalgleish, R., Fedtsov, A., Fox, N. K., Freeman, P. J., Jacobs, K. B., Kaleta, P., McMurry, A. J., Prlić, A., Rajaraman, V. & Hart, R. K., 17 Nov 2018, In : Human Mutation. 39, 12, p. 1803-1813 11 p.

    Research output: Contribution to journalArticle

  3. Published

    Improvements in and relating to hybridisation selection targeted enrichment of DNA

    Freeman, P. J. & Brookes, A. J., 11 Apr 2018, Priority date 1 Jun 2015, Priority No. EP3303615

    Research output: Patent

  4. Published

    VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions

    Freeman, P. J., Hart, R. K., Gretton, L. J., Brookes, A. J. & Dalgleish, R., Jan 2018, In : Human Mutation. 39, 1, p. 61-68 8 p.

    Research output: Contribution to journalArticle

  5. Published

    SMYD2 promoter DNA methylation is associated with abdominal aortic aneurysm (AAA) and SMYD2 expression in vascular smooth muscle cells

    UKAGS collaborators & Freeman, P. J., 2018, In : Clinical Epigenetics. 10, 1, 29.

    Research output: Contribution to journalArticle

  6. 2015
  7. Published

    New technologies for DNA analysis--a review of the READNA Project

    McGinn, S., Bauer, D., Brefort, T., Dong, L., El-Sagheer, A., Elsharawy, A., Evans, G., Falk-Sörqvist, E., Forster, M., Fredriksson, S., Freeman, P., Freitag, C., Fritzsche, J., Gibson, S., Gullberg, M., Gut, M., Heath, S., Heath-Brun, I., Heron, A. J., Hohlbein, J. & 47 others, Ke, R., Lancaster, O., Le Reste, L., Maglia, G., Marie, R., Mauger, F., Mertes, F., Mignardi, M., Moens, L., Oostmeijer, J., Out, R., Pedersen, J. N., Persson, F., Picaud, V., Rotem, D., Schracke, N., Sengenes, J., Stähler, P. F., Stade, B., Stoddart, D., Teng, X., Veal, C. D., Zahra, N., Bayley, H., Beier, M., Brown, T., Dekker, C., Ekström, B., Flyvbjerg, H., Franke, A., Guenther, S., Kapanidis, A. N., Kaye, J., Kristensen, A., Lehrach, H., Mangion, J., Sauer, S., Schyns, E., Tost, J., van Helvoort, J. M. L. M., van der Zaag, P. J., Tegenfeldt, J. O., Brookes, A. J., Mir, K., Nilsson, M., Willcocks, J. P. & Gut, I. G., 26 Oct 2015, In : New Biotechnology. 33, 3, p. 311-30 20 p.

    Research output: Contribution to journalReview article

  8. 2012
  9. Published

    A mechanistic basis for amplification differences between samples and between genome regions

    Veal, C. D., Freeman, P. J., Jacobs, K., Lancaster, O., Jamain, S., Leboyer, M., Albanes, D., Vaghela, R. R., Gut, I., Chanock, S. J. & Brookes, A. J., 5 Sep 2012, In : BMC Genomics. 13, 455, p. 1-10 10 p.

    Research output: Contribution to journalArticle

  10. 2011
  11. Published

    L1 Hybridization Enrichment: A Method for Directly Accessing De Novo L1 Insertions in the Human Germline

    Freeman, P., Macfarlane, C., Collier, P., Jeffreys, A. J. & Badge, R. M., May 2011, In : Human Mutation. 32, 8, p. 978-988 11 p.

    Research output: Contribution to journalArticle