Type

Journal Article

Authors

Derek Morris
Michael Gill
Aiden Corvin
Carlos Pinto
Paul Cormican
Willim Peter Gilks
Colm T O'Dushlaine
Elaine Kenny
Amy S Gates

Subjects

Biochemistry

Topics
genes society sequence analysis detection economics next generation sequencing dna exons neuroscience high throughput nucleotide sequencing genetics high throughput polymorphism single nucleotide rna complementary

Multiplex Target Enrichment Using DNA Indexing for Ultra-High Throughput SNP Detection. (2010)

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 ?g of input DNA per sample.
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Full list of authors on original publication

Derek Morris, Michael Gill, Aiden Corvin, Carlos Pinto, Paul Cormican, Willim Peter Gilks, Colm T O'Dushlaine, Elaine Kenny, Amy S Gates

Experts in our system

1
Derek Morris
Trinity College Dublin
Total Publications: 150
 
2
Michael Gill
Trinity College Dublin
Total Publications: 260
 
3
Aiden Corvin
Trinity College Dublin
Total Publications: 190
 
4
Paul Cormican
Trinity College Dublin
Total Publications: 39
 
5
Colm T O'Dushlaine
Trinity College Dublin
Total Publications: 28
 
6
Elaine Kenny
Trinity College Dublin
Total Publications: 28