ArticleDNA research : an international journal for rapid publication of reports on genes and genomes2011
Multiplex target enrichment using DNA indexing for ultra-high throughput SNP detection.
Article in DNA research : an international journal for rapid publication of reports on genes and genomes, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed.
- The impact of life stage and pigment source on the evolution of novel warning signal traits.Evolution; international journal of organic evolution · 2022Article
- Novel Discovery of LINE-1 in a Korean Individual by a Target Enrichment Method.Molecules and cells · 2019Article
- Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Rapid and cost-effective high-throughput sequencing for identification of germline mutations of BRCA1 and BRCA2.Journal of human genetics · 2017Article
- Targeted Capture of Complete Coding Regions across Divergent Species.Genome biology and evolution · 2017Article
- Development of genetic markers in Eucalyptus species by target enrichment and exome sequencing.PloS one · 2015Article
- Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.European journal of human genetics : EJHG · 2014Article
- Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders.Molecular psychiatry · 2014Article
- Efficient Genome-Wide Detection and Cataloging of EMS-Induced Mutations Using Exome Capture and Next-Generation Sequencing.The Plant cell · 2014Article
- Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.Journal of medical genetics · 2013Article
- A next-generation sequencing method for genotyping-by-sequencing of highly heterozygous autotetraploid potato.PloS one · 2013Article
- Population-based rare variant detection via pooled exome or custom hybridization capture with or without individual indexing.BMC genomics · 2012Article
- Pre-capture multiplexing improves efficiency and cost-effectiveness of targeted genomic enrichment.BMC genomics · 2012Article
- Accurate variant detection across non-amplified and whole genome amplified DNA using targeted next generation sequencing.BMC genomics · 2012Article
- Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.Journal of the American Society of Nephrology : JASN · 2012Article
- Ultraconserved elements are novel phylogenomic markers that resolve placental mammal phylogeny when combined with species-tree analysis.Genome research · 2012Article
- The quest for rare variants: pooled multiplexed next generation sequencing in plants.Frontiers in plant science · 2012Article
- Double digest RADseq: an inexpensive method for de novo SNP discovery and genotyping in model and non-model species.PloS one · 2012Article
- Next generation sequencing of CLU, PICALM and CR1: pitfalls and potential solutions.International journal of molecular epidemiology and genetics · 2012Article
- Next-generation sequencing technologies and applications for human genetic history and forensics.Investigative genetics · 2011Article
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
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.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.