rna-seq methods for imperfect samples development, evaluation and applicationsrna-seq方法不完美的样品开发,评估和应用程序.pdf

Genome Biology 2011, 12(Suppl 1) /supplements/12/S1 M E E T I N G A B S T R AC T S Beyond the Genome 2011 Washington DC, USA. 19–22 September 2011 Published: 19 September 2011 INVITED SPEAKER PRESENTATIONS I4 Interrogating the architecture of cancer genomes Peter Campbell I1 Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, UK Analysis of 2,440 human exomes highlights the evolution and functional Genome Biology 2011, 12(Suppl 1):I11 impact of rare coding variation Joshua Akey Cancer is driven by mutation. Using massively parallel sequencing technology, Department of Genome Sciences, University of Washington, Seattle, WA 98195, we can now sequence the entire genome of cancer samples, allowing the USA generation of comprehensive catalogs of somatic mutations of all classes. Genome Biology 2011, 12(Suppl 1):I18 Bespoke algorithms have been developed to identify somatically acquired point mutations, copy number changes and genomic rearrangements, which Deep exome resequencing is a powerful approach for delineating patterns require extensive validation by coni rmatory testing. The i ndings from our i rst of