ArticleNature methods2010
Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples.
Article in Nature methods, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
What it found
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
39 citing papers in PubMed.
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- Identification of candidate genes for developmental colour agnosia in a single unique family.PloS one · 2023Article
- The role of rare compound heterozygous events in autism spectrum disorder.Translational psychiatry · 2020Article
- Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.Scientific reports · 2018Article
- Inferring the evolution of the major histocompatibility complex of wild pigs and peccaries using hybridisation DNA capture-based sequencing.Immunogenetics · 2018Article
- Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease.The Journal of biological chemistry · 2017Article
- Targeted Capture of Complete Coding Regions across Divergent Species.Genome biology and evolution · 2017Article
- Reduced serpinB9-mediated caspase-1 inhibition can contribute to autoinflammatory disease.Oncotarget · 2016Article
- Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy.Epilepsy research · 2014Article
- Next-generation sequencing for research and diagnostics in kidney disease.Nature reviews. Nephrology · 2014Review
- Discovery of rare mutations in extensively pooled DNA samples using multiple target enrichment.Plant biotechnology journal · 2014Article
- Efficient Genome-Wide Detection and Cataloging of EMS-Induced Mutations Using Exome Capture and Next-Generation Sequencing.The Plant cell · 2014Article
- Ovarian cancer cell line panel (OCCP): clinical importance of in vitro morphological subtypes.PloS one · 2014Article
- Accurate detection of subclonal single nucleotide variants in whole genome amplified and pooled cancer samples using HaloPlex target enrichment.BMC genomics · 2013Article
- InsertionMapper: a pipeline tool for the identification of targeted sequences from multidimensional high throughput sequencing data.BMC genomics · 2013Article
- A next-generation sequencing method for genotyping-by-sequencing of highly heterozygous autotetraploid potato.PloS one · 2013Article
- Rare variant discovery and calling by sequencing pooled samples with overlaps.Bioinformatics (Oxford, England) · 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
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Targeted genomic enrichment followed by next-generation DNA sequencing has dramatically increased efficiency of mutation-discovery efforts. We describe a protocol for genomic enrichment of pooled barcoded samples in a single assay that increases experimental flexibility and efficiency. We screened 770 genes (1.4 megabases) in thirty N-ethyl-N-nitrosourea (ENU)-mutagenized rats and identified known variants at >96% sensitivity as well as new mutations at a false positive rate < 1 in 8 megabases.
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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.