ArticleHuman mutation2015
Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data.
Article in Human mutation, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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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
7 citing papers in PubMed.
- Homozygous NonsenseJournal of clinical medicine · 2026Article
- A homozygousJBMR plus · 2024Article
- Mapping the Most Common Founder Variant inJournal of clinical medicine · 2023Article
- Identification of a novel founder variant inFrontiers in genetics · 2022Article
- KMT2C, a histone methyltransferase, is mutated in a family segregating non-syndromic primary failure of tooth eruption.Scientific reports · 2019Article
- A Novel Missense LIG4 Mutation in a Patient With a Phenotype Mimicking Behçet's Disease.Journal of clinical immunology · 2019Article
- Whole exome sequencing unveils a frameshift mutation in CNGB3 for cone dystrophy: A case report of an Indian family.Medicine · 2017Article
Corrections and comments
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Authors and funding
11 authors.
Funding
Abstract
Autozygosity mapping is a powerful technique for the identification of rare, autosomal recessive, disease-causing genes. The ease with which this category of disease gene can be identified has greatly increased through the availability of genome-wide SNP genotyping microarrays and subsequently of exome sequencing. Although these methods have simplified the generation of experimental data, its analysis, particularly when disparate data types must be integrated, remains time consuming. Moreover, the huge volume of sequence variant data generated from next generation sequencing experiments opens up the possibility of using these data instead of microarray genotype data to identify disease loci. To allow these two types of data to be used in an integrated fashion, we have developed AgileVCFMapper, a program that performs both the mapping of disease loci by SNP genotyping and the analysis of potentially deleterious variants using exome sequence variant data, in a single step. This method does not require microarray SNP genotype data, although analysis with a combination of microarray and exome genotype data enables more precise delineation of disease loci, due to superior marker density and distribution.
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Registered trials
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