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PMID: 19543287 Published · ppublish English Journal Article

Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection.

Nature methods ·Vol. 6 ·No. 7 ·2009-07-00 ·Pages 507-10

Herman DS, Hovingh GK, Iartchouk O, Rehm HL, Kucherlapati R, Seidman JG, Seidman CE

Abstract

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 >or=20 times ( approximately 40,000-fold enrichment), enabling sensitive and specific detection of sequence variation and copy-number variation.

MeSH Terms
Cardiovascular Diseases/genetics Filtration Gene Dosage Genome, Human Genomic Library Genomics/methods,statistics & numerical data Humans Nucleic Acid Hybridization/methods Polymerase Chain Reaction Sensitivity and Specificity Sequence Analysis, DNA/methods,statistics & numerical data
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Herman Daniel S
Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.
Hovingh G Kees
Iartchouk Oleg
Rehm Heidi L
Kucherlapati Raju
Seidman J G
Seidman Christine E
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Article Info
Journal
Nature methods
Abbr.
Nat Methods
ISSN
1548-7105
DOI
10.1038/nmeth.1343
Published
2009-07-00
Epub
2009-00-21
Pages
507-10
Language
English
Region
United States
NLM ID
101215604
PMCID
PMC2773433
Subset
IM
Grants
NHLBI NIH HHS · R01 HL080494-02 · United States
NHLBI NIH HHS · PL1 HL092552-01 · United States
NHLBI NIH HHS · PL1 HL092552-03 · United States
NIGMS NIH HHS · T32 GM007753 · United States
NHLBI NIH HHS · R01 HL080494 · United States
NHLBI NIH HHS · R01 HL084553-03 · United States
Howard Hughes Medical Institute · United States
NHLBI NIH HHS · R01 HL084553 · United States
NHLBI NIH HHS · R01 HL084553-01A1 · United States
NHLBI NIH HHS · PL1 HL092552 · United States
NHLBI NIH HHS · R01 HL080494-04 · United States
NHLBI NIH HHS · R01 HL084553-02 · United States
NHLBI NIH HHS · PL1 HL092552-02S1 · United States
NHLBI NIH HHS · R01 HL080494-03 · United States
NHLBI NIH HHS · R01 HL080494-01 · United States
NHLBI NIH HHS · PL1 HL092552-02 · United States
External Links
PubMed source DOI: 10.1038/nmeth.1343 PMC Full Text View journal details
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