Genome Medicine


New strategies and emerging technologies for massively parallel sequencing: applications in medical research

Elaine R Mardis

Genome Medicine 2009, 1:40 doi:10.1186/gm40

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Methodology article   Open Access Highly Accessed

A novel and well-defined benchmarking method for second generation read mapping

Manuel Holtgrewe, Anne-Katrin Emde, David Weese, Knut Reinert BMC Bioinformatics 2011, 12:210 (26 May 2011)

Research   Open Access Highly Accessed

Next generation sequence analysis for mitochondrial disorders

Valeria Vasta, Sarah B Ng, Emily H Turner, Jay Shendure, Si Houn Hahn Genome Medicine 2009, 1:100 (23 October 2009)

Early and accurate diagnosis of mitochondrial disorders is promised by a cost-effective screening method which can rapidly detect mutations in several hundred candidate genes.