globe
  1. Introduction to genetics and genomics, and DNA sequencing 10 items
    1. Human molecular genetics - T. Strachan, Andrew P. Read 2010

      Book Essential

    2. New clinical genetics: 3 - A. F. Read, D. Donnai 2015

      Book 

    3. 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

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

      Article Essential

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

      Article 

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

      Article 

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

      Article 

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

      Article Essential

  2. Next generation sequencing 5 items
    1. Ten years of next-generation sequencing technology - Erwin L. van Dijk, Hélène Auger, Yan Jaszczyszyn, Claude Thermes 09/2014

      Article 

    2. Informatics and clinical genome sequencing: opening the black box - Sowmiya Moorthie, Alison Hall, Caroline F. Wright 2013-3

      Article 

    3. Coming of age: ten years of next-generation sequencing technologies - Sara Goodwin, John D. McPherson, W. Richard McCombie 2016-5-17

      Article 

  3. Genomics in the clinic 6 items
    1. Recommendations for the integration of genomics into clinical practice - Sarah Bowdin, Adel Gilbert, Emma Bedoukian, Christopher Carew 11/2016

      Article 

    2. ACMG clinical laboratory standards for next-generation sequencing - Heidi L. Rehm, Sherri J. Bale, Pinar Bayrak-Toydemir, Jonathan S. Berg 2013-9

      Article 

    3. Sequencing depth and coverage: key considerations in genomic analyses - David Sims, Ian Sudbery, Nicholas E. Ilott, Andreas Heger 2014-2

      Article 

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

      Article 

    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 

  5. 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 

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

      Article Essential