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Screening the human exome: a comparison of whole genome and whole transcriptome sequencing

Elizabeth T Cirulli†, Abanish Singh†, Kevin V Shianna, Dongliang Ge, Jason P Smith, Jessica M Maia, Erin L Heinzen, James J Goedert, David B Goldstein* and the Center for HIV/AIDS Vaccine Immunology (CHAVI)

Genome Biology 2010, 11:R57 doi:10.1186/gb-2010-11-5-r57

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Towards accurate detection and genotyping of expressed variants from whole transcriptome sequencing data

Jorge Duitama, Pramod K Srivastava, Ion I Măndoiu BMC Genomics 2012, 13(Suppl 2):S6 (12 April 2012)

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Identification of cis-regulatory sequence variations in individual genome sequences

Rebecca Worsley-Hunt, Virginie Bernard, Wyeth W Wasserman Genome Medicine 2011, 3:65 (10 October 2011)

Abstract | Full text | PDF | PubMed |  Editor’s summary

Wasserman and colleagues review existing methods and software for predicting the impact of cis-regulatory mutations on disease gene transcription and RNA processing.

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