ArticleBMC genomics2012
Exon capture and bulk segregant analysis: rapid discovery of causative mutations using high-throughput sequencing.
Article in BMC genomics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 22 citations in OpenAlex.
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- Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.American journal of human genetics · 2020Article
- CRISPR-Cpf1 mediates efficient homology-directed repair and temperature-controlled genome editing.Nature communications · 2017Article
- Transcriptomic insights into genetic diversity of protein-coding genes in X. laevis.Developmental biology · 2017Article
- Targeted capture in evolutionary and ecological genomics.Molecular ecology · 2016Review
- CRISPR/Cas9: An inexpensive, efficient loss of function tool to screen human disease genes in Xenopus.Developmental biology · 2015Article
- CRISPRscan: designing highly efficient sgRNAs for CRISPR-Cas9 targeting in vivo.Nature methods · 2015Article
- Using next-generation sequencing to isolate mutant genes from forward genetic screens.Nature reviews. Genetics · 2014Review
- Targeted sequence capture provides insight into genome structure and genetics of male sterility in a gynodioecious diploid strawberry, Fragaria vesca ssp. bracteata (Rosaceae).G3 (Bethesda, Md.) · 2013Article
Corrections and comments
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Authors and funding
5 authors at 4 institutions in 2 countries.
Funding
Abstract
backgroundExome sequencing has transformed human genetic analysis and may do the same for other vertebrate model systems. However, a major challenge is sifting through the large number of sequence variants to identify the causative mutation for a given phenotype. In models like Xenopus tropicalis, an incomplete and occasionally incorrect genome assembly compounds this problem. To facilitate cloning of X. tropicalis mutants identified in forward genetic screens, we sought to combine bulk segregant analysis and exome sequencing into a single step.
resultsHere we report the first use of exon capture sequencing to identify mutations in a non-mammalian, vertebrate model. We demonstrate that bulk segregant analysis coupled with exon capture sequencing is not only able to identify causative mutations but can also generate linkage information, facilitate the assembly of scaffolds, identify misassembles, and discover thousands of SNPs for fine mapping.
conclusionExon capture sequencing and bulk segregant analysis is a rapid, inexpensive method to clone mutants identified in forward genetic screens. With sufficient meioses, this method can be generalized to any model system with a genome assembly, polished or unpolished, and in the latter case, it also provides many critical genomic resources.
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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.