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  1. Core text 1 item
    1. Emery's Elements of Medical Genetics - Peter D. Turnpenny, Sian Ellard 2017

      Book  ebook available via University library. Access the book on the library site via this link then click on the Elsevier ClinicalKey Medical Education to create a personal profile. Select ‘Register now’ to create an account. Once you have generated your account you will be able use Study Tools such as highlighting, note-making, bookmarking and exporting notes to OneNote.

  2. Section 01 - Background to Genetics and Bioinformatics 12 items
    1. Cost-effectiveness analyses of genetic and genomic diagnostic tests - Katherine Payne, Sean P. Gavan, Stuart J. Wright, Alexander J. Thompson 2018-1-22

      Article Further

    2. Introduction to genetics and genomics, and DNA sequencing 9 items
      1. What is a gene, post-ENCODE? History and updated definition - M. B. Gerstein, C. Bruce, J. S. Rozowsky, D. Zheng 01/06/2007

        Article Essential

      2. Non-coding RNAs: key regulators of mammalian transcription - Jennifer F. Kugel, James A. Goodrich 2012-4

        Article Essential

      3. Long non-coding RNAs and enhancers - Ulf Andersson Ørom, Ramin Shiekhattar 2011-4

        Article Further

      4. Defining functional DNA elements in the human genome - M. Kellis, B. Wold, M. P. Snyder, B. E. Bernstein 29/04/2014

        Article Further

      5. The pathobiology of splicing - Amanda J Ward, Thomas A Cooper 2009

        Article Further

      6. RNA splicing: disease and therapy - A. G. L. Douglas, M. J. A. Wood 01/05/2011

        Article Essential

  3. Section 02 - The Human Genome 9 items
    1. Emery's Elements of Medical Genetics (pp 14-17) - Peter D. Turnpenny, Sian Ellard 2017

      Book Essential

    2. New Clinical Genetics 3 (pp. 58-61 and 70-71) - A. F. Read, D. Donnai 2015, ©2015

      Chapter Essential

    3. Initial sequencing and analysis of the human genome - International Human Genome Sequencing Consortium 2001-2

      Article Essential

    4. Modernizing Reference Genome Assemblies - Deanna M. Church, Valerie A. Schneider, Tina Graves, Katherine Auger 2011-7-5

      Article Further

    5. Extending reference assembly models - Deanna M Church, Valerie A Schneider, Karyn Steinberg, Michael C Schatz 2015

      Article Further

  4. Section 03 - Understanding variation 6 items
    1. HGVS Recommendations for the Description of Sequence Variants: 2016 Update - Johan T. den Dunnen, Raymond Dalgleish, Donna R. Maglott, Reece K. Hart 06/2016

      Article Essential

    2. Variant interpretation 3 items
      1. Settling the score: variant prioritization and Mendelian disease - Karen Eilbeck, Aaron Quinlan, Mark Yandell 2017-8-14

        Article Further

      2. VCF.Filter: interactive prioritization of disease-linked genetic variants from sequencing data - Heiko Müller, Raul Jimenez-Heredia, Ana Krolo, Tatjana Hirschmugl 03/07/2017

        Article Further

  5. Section 04 - Understanding genotype to phenotype 1 item
  6. Section 05 - Sequence analysis 3 items
    1. Structural conservation of interferon gamma among vertebrates - Ram Savan, Sarangan Ravichandran, Jack R. Collins, Masahiro Sakai 2009-4

      Article Further

  7. Section 06 - Examining a variant 7 items
    1. Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic) - Mireille Claustres, Viktor Kožich, Els Dequeker, Brain Fowler 2014-2

      Article Essential

  8. Section 07 - Population level sequencing data 2 items
    1. Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria - Keith Nykamp, Michael Anderson, Martin Powers, John Garcia 10/2017

      Article Essential

    2. Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel. - Kelly MA1, Caleshu C2, Morales A3, Buchan J1, Wolf Z1, Harrison SM1, Cook S4, Dillon MW1, Garcia J5, Haverfield E5, Jongbloed JDH6, Macaya D7, Manrai A8, Orland K9, Richard G7, Spoonamore K10, Thomas M11, Thomson K12,13, Vincent LM7, Walsh R4,14, Watkins H13, Whiffin N4,14, Ingles J15, van Tintelen JP16, Semsarian C15, Ware JS4,14, Hershberger R3, Funke B1,17,18. 2018

      Article Further

  9. Section 08 - Disease-specific databases 4 items
    1. Genetic variation databases 3 items
      1. ClinVar: public archive of interpretations of clinically relevant variants - Melissa J. Landrum, Jennifer M. Lee, Mark Benson, Garth Brown 04/01/2016

        Article Further

      2. Human genotype–phenotype databases: aims, challenges and opportunities - Anthony J. Brookes, Peter N. Robinson 10/11/2015

        Article Essential

  10. Section 09 - Ethical issues 2 items