ArticleGenetic epidemiology2017
Whole exome association of rare deletions in multiplex oral cleft families.
Article in Genetic epidemiology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
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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.
- Identification of novel susceptibility genes for non-syndromic cleft lip with or without cleft palate using NGS-based multigene panel testing.Molecular genetics and genomics : MGG · 2022Article
- Article
- Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios.American journal of human genetics · 2020Article
- Detection of rare disease variants in extended pedigrees using RVS.Bioinformatics (Oxford, England) · 2019Article
- AWESOME: a database of SNPs that affect protein post-translational modifications.Nucleic acids research · 2019Article
- BRCA1 and BRCA2 gene variants and nonsyndromic cleft lip/palate.Birth defects research · 2018Article
- Genetic factors influencing risk to orofacial clefts: today's challenges and tomorrow's opportunities.F1000Research · 2016Review
Corrections and comments
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Authors and funding
15 authors.
Funding
Abstract
By sequencing the exomes of distantly related individuals in multiplex families, rare mutational and structural changes to coding DNA can be characterized and their relationship to disease risk can be assessed. Recently, several rare single nucleotide variants (SNVs) were associated with an increased risk of nonsyndromic oral cleft, highlighting the importance of rare sequence variants in oral clefts and illustrating the strength of family-based study designs. However, the extent to which rare deletions in coding regions of the genome occur and contribute to risk of nonsyndromic clefts is not well understood. To identify putative structural variants underlying risk, we developed a pipeline for rare hemizygous deletions in families from whole exome sequencing and statistical inference based on rare variant sharing. Among 56 multiplex families with 115 individuals, we identified 53 regions with one or more rare hemizygous deletions. We found 45 of the 53 regions contained rare deletions occurring in only one family member. Members of the same family shared a rare deletion in only eight regions. We also devised a scalable global test for enrichment of shared rare deletions.
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Registered trials
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