ArticleGenome research2003
DNA enrichment by allele-specific hybridization (DEASH): a novel method for haplotyping and for detecting low-frequency base substitutional variants and recombinant DNA molecules.
Article in Genome research, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 26 citations in OpenAlex.
- Review
- Massively parallel enrichment of low-frequency alleles enables duplex sequencing at low depth.Nature biomedical engineering · 2022Article
- Review
- Local and sex-specific biases in crossover vs. noncrossover outcomes at meiotic recombination hot spots in mice.Genes & development · 2015Article
- Transmission distortion affecting human noncrossover but not crossover recombination: a hidden source of meiotic drive.PLoS genetics · 2014Article
- Differential strand separation at critical temperature: a minimally disruptive enrichment method for low-abundance unknown DNA mutations.Nucleic acids research · 2013Article
- Winnowing DNA for rare sequences: highly specific sequence and methylation based enrichment.PloS one · 2012Article
- L1 hybridization enrichment: a method for directly accessing de novo L1 insertions in the human germline.Human mutation · 2011Article
- Comprehensive, fine-scale dissection of homologous recombination outcomes at a hot spot in mouse meiosis.Molecular cell · 2010Article
- Contrasting methods of quantifying fine structure of human recombination.Annual review of genomics and human genetics · 2010Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Detecting rare sequence variants in genomic DNA is central to the analysis of de novo mutation and recombination events and the detection of rare pathological mutations in mixed cell populations. Current PCR techniques suffer from noise that limits detection to variants present at a frequency of at least 10(-4)-10(-5) per cell. We now describe an alternative approach that recovers genomic DNA molecules containing a known single-nucleotide variant by hybridization selection using a biotinylated allele-specific oligonucleotide, followed by hybrid capture on streptavidin-coated paramagnetic beads and subsequent analysis by PCR. This technique of DNA enrichment by allele-specific hybridization (DEASH) is fast, effective for all tested single-nucleotide polymorphisms (SNPs), and can recover large (>10 kb) single-stranded molecules. A single round of DEASH is effective in separating haplotypes from genomic DNA and can not only readily detect and validate DNA molecules containing a single base change at a frequency of 10(-5) per cell, but can also place these changes within the context of an extended haplotype. This technique offers a new approach to the analysis of mutation and recombination, and has the potential to detect very rare de novo base substitutions.
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Registered trials
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.