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

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 kb of the human genome encompassing 47 genes implicated in cardiovascular diseas...

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Autores principales: Herman, Daniel S, Hovingh, G Kees, Iartchouk, Oleg, Rehm, Heidi L, Kucherlapati, Raju, Seidman, J G, Seidman, Christine E
Formato: Texto
Lenguaje:English
Publicado: 2009
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2773433/
https://www.ncbi.nlm.nih.gov/pubmed/19543287
http://dx.doi.org/10.1038/nmeth.1343
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author Herman, Daniel S
Hovingh, G Kees
Iartchouk, Oleg
Rehm, Heidi L
Kucherlapati, Raju
Seidman, J G
Seidman, Christine E
author_facet Herman, Daniel S
Hovingh, G Kees
Iartchouk, Oleg
Rehm, Heidi L
Kucherlapati, Raju
Seidman, J G
Seidman, Christine E
author_sort Herman, Daniel S
collection PubMed
description 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 kb of the human genome encompassing 47 genes implicated in cardiovascular disease. 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 and copy number variation.
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spelling pubmed-27734332010-01-01 Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection Herman, Daniel S Hovingh, G Kees Iartchouk, Oleg Rehm, Heidi L Kucherlapati, Raju Seidman, J G Seidman, Christine E Nat Methods Article 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 kb of the human genome encompassing 47 genes implicated in cardiovascular disease. 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 and copy number variation. 2009-06-21 2009-07 /pmc/articles/PMC2773433/ /pubmed/19543287 http://dx.doi.org/10.1038/nmeth.1343 Text en http://www.nature.com/authors/editorial_policies/license.html#terms Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use:http://www.nature.com/authors/editorial_policies/license.html#terms
spellingShingle Article
Herman, Daniel S
Hovingh, G Kees
Iartchouk, Oleg
Rehm, Heidi L
Kucherlapati, Raju
Seidman, J G
Seidman, Christine E
Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection
title Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection
title_full Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection
title_fullStr Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection
title_full_unstemmed Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection
title_short Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection
title_sort filter-based hybridization capture of subgenomes enables resequencing and copy-number detection
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2773433/
https://www.ncbi.nlm.nih.gov/pubmed/19543287
http://dx.doi.org/10.1038/nmeth.1343
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