Brief Communication abstract
Nature Methods 6, 507 - 510 (2009)
Published online: 21 June 2009 | doi:10.1038/nmeth.1343
Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection
Daniel S Herman1, G Kees Hovingh1,2, Oleg Iartchouk3, Heidi L Rehm3,4, Raju Kucherlapati1,3, J G Seidman1,3,6 & Christine E Seidman1,3,5,6
To exploit contemporary sequencing technologies for targeted genetic analyses, we developed a hybridization enrichment strategy for DNA capture that uses PCR products as subgenomic traps. We applied this strategy to 115 kilobases of the human genome encompassing 47 genes implicated in cardiovascular disease. Massively parallel sequencing of captured subgenomic libraries interrogated 99.8% of targeted nucleotides 
20 times (
40,000-fold enrichment), enabling sensitive and specific detection of sequence variation and copy-number variation.
- Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.
- Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
- Partners Healthcare Center for Personalized Genetic Medicine, Harvard Medical School, Boston, Massachusetts, USA.
- Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
- Howard Hughes Medical Institute, Harvard Medical School, Boston, Massachusetts, USA.
- These authors contributed equally to this work.
Correspondence to: Christine E Seidman1,3,5,6 e-mail: cseidman@genetics.med.harvard.edu
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