Week 8: August 11, 2010

Human Genome Sequencing and Structural Variation


Instructor:

Michael Snyder, PhD
Professor and Chair of Genetics

Learning Objectives

  • Gain familiarty with whole-genome sequencing technologies
  • Gain understanding of differences in information content between SNP genotyping and whole-genome sequencing
  • Gain understanding of "missing heritability" for many complex human traits and where this information may lie


  • Data Exercises (Instructions)

  • Predicting phenotype (height) using genotype vs. family history
  • Calculating percentage of phenotypic variance explained by genotype vs. family history


  • Lecture Slides
    Exercise Slides
    Data Exercise Results


    Readings

    1. Personal genome sequencing: current approaches and challenges.
      Snyder M, Du J, Gerstein M.
      Genes Dev. 2010 Mar 1;24(5):423-31.

    2. Annotating non-coding regions of the genome.
      Alexander RP, Fang G, Rozowsky J, Snyder M, Gerstein MB.
      Nat Rev Genet. 2010 Aug;11(8):559-71. Epub 2010 Jul 13.

    3. Finding the missing heritability of complex diseases.
      Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, McCarthy MI, Ramos EM, Cardon LR, Chakravarti A, Cho JH, Guttmacher AE, Kong A, Kruglyak L, Mardis E, Rotimi CN, Slatkin M, Valle D, Whittemore AS, Boehnke M, Clark AG, Eichler EE, Gibson G, Haines JL, Mackay TF, McCarroll SA, Visscher PM.
      Nature. 2009 Oct 8;461(7265):747-53. Review.

    4. Sizing up human height variation.
      Visscher PM.
      Nat Genet. 2008 May;40(5):489-90.