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Please use this identifier to cite or link to this item: http://hdl.handle.net/2262/48064

Title: Multiplex Target Enrichment Using DNA Indexing for Ultra-High Throughput SNP Detection.
Author: PINTO, CARLOS
CORMICAN, PAUL
MORRIS, DEREK
CORVIN, AIDEN PETER
GILL, MICHAEL
KENNY, ELAINE
GILKS, WILLIAM PETER
Sponsor: 
Name Grant Number
SFI/07/RFP/GEN/F327/EC07
HRB/HRA/2009/45

Author's Homepage: http://people.tcd.ie/kennyel
http://people.tcd.ie/capinto
http://people.tcd.ie/pcormica
http://people.tcd.ie/morrisdw
http://people.tcd.ie/acorvin
http://people.tcd.ie/mgill
http://people.tcd.ie/gilkswp
Keywords: Genetics
Next-generation sequencing
Issue Date: 2011
Citation: Kenny EM, Cormican P, Gilks WP, Gates AS, O'Dushlaine CT, Pinto C, Corvin AP, Gill M, Morris DW, Multiplex Target Enrichment Using DNA Indexing for Ultra-High Throughput SNP Detection., DNA research : an international journal for rapid publication of reports on genes and genomes, 18, 1, 2011, 31-38
Series/Report no.: DNA research : an international journal for rapid publication of reports on genes and genomes
18
1
Abstract: Screening large numbers of target regions in multiple DNA samples for sequence variation is an important application of next-generation sequencing but an efficient method to enrich the samples in parallel has yet to be reported. We describe an advanced method that combines DNA samples using indexes or barcodes prior to target enrichment to facilitate this type of experiment. Sequencing libraries for multiple individual DNA samples, each incorporating a unique 6-bp index, are combined in equal quantities, enriched using a single in-solution target enrichment assay and sequenced in a single reaction. Sequence reads are parsed based on the index, allowing sequence analysis of individual samples. We show that the use of indexed samples does not impact on the efficiency of the enrichment reaction. For three- and nine-indexed HapMap DNA samples, the method was found to be highly accurate for SNP identification. Even with sequence coverage as low as 8x, 99% of sequence SNP calls were concordant with known genotypes. Within a single experiment, this method can sequence the exonic regions of hundreds of genes in tens of samples for sequence and structural variation using as little as 1 μg of input DNA per sample.
Description: PUBLISHED
URI: http://hdl.handle.net/2262/48064
Related links: http://dx.doi.org/10.1093/dnares/dsq029
Appears in Collections:Psychiatry (Scholarly Publications)

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