Exome sequencing special issue Genome Biology

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  Next-generation human genetics

  Exome and genome sequencing are reshaping the landscape of human genetics; Jay Shendure discusses the lessons learnt and opportunities opened
  

  Genome Biology 2011, 12:408
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  Exome issue editorial

  Special Issues Editor, Hannah Stower, introduces Genome Biology's issue on exome sequencing
  

  Genome Biology 2011, 12:407
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  Unlocking Mendelian disease using exome sequencing

  In the past 2 years, exome sequencing has provided significant new insights into the causes of both Mendelian and sporadic genetic diseases
  

  Genome Biology 2011, 12:228
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  Exome sequencing

  Many computational and statistical methods are now available to narrow down causal variants in exome sequencing data, for both Mendelian and complex diseases
  

  Genome Biology 2011, 12:227
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  Exome sequencing: the expert view

  Three leaders in the field of exome sequencing discuss why the approach is so popular and how it is contributing to genomics
  

  Genome Biology 2011, 12:128
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  Population exomics and human evolution

  Exome sequencing is poised to yield substantial insights into human genetic variation and evolutionary history, but there are significant challenges to overcome before this becomes a reality
  

  Genome Biology 2011, 12:127
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  Hereditary hearing loss genes

  Targeted capture and sequencing of genomic DNA from subjects with inherited hearing loss offers an effective screen for mutations
  

  Genome Biology 2011, 12:R89
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  Wheat exon capture

  Capture tools for 3.5 Mb exon regions of allotetraploid wheat are developed and applied to identify coding differences in wild and cultivated wheat
  

  Genome Biology 2011, 12:R88
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  Mouse exome capture

  In solution capture reagents are developed for the mouse exome and demonstrated in multiple inbred strains and novel mutant strains
  

  Genome Biology 2011, 12:R86
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  Exome linkage analysis

  A method for performing linkage analysis from exome sequencing variant data is presented
  

  Genome Biology 2011, 12:R85
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  Rare coding variants

  The 1000 Genomes Project presents exome sequence data for 1000 genes from 700 individuals, better defining low frequency variants
  

  Genome Biology 2011, 12:R84
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  The cost of sequencing

  The sharp decrease in the cost of 'data generation' has not been matched by a comparable decrease in the cost of the computational infrastructure required to mine the data
  

  Genome Biology 2011, 12:125