Dataset Exome chip association study in the etiology of anorectal malformations

Abstract

This dataset belongs to the publication "Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations", published in PLOS ONE in 2019 by van de Putte et al.

This dataset was used to evaluate the contribution of rare and low-frequency coding variants in ARM etiology. We analyzed 568 Caucasian ARM patients and 1,860 population-based controls using the Illumina HumanExome Beadchip array, which contains >240,000 rare and low-frequency coding variants. We restricted our analyses to variants with a MAF cut-off at 0.4% to reduce potential false-positives and to have sufficient power to possibly replicate a statistically significantly associated variant. For more information regarding this study, we would like to refer to the original publication.

The dataset contains all relevant information to be able to replicate the findings described in the paper. We have shared the genotyping information (obtained with the Illumina Human Exome Beadchip array) after quality control, of the single variant analyses restricted to a MAF value of ≥0.4%. The analyses described in the publication with a MAF restricted to ≥1.0% can also be performed using this data. In addition, case-control status and sex are present in the datafiles. To be able to replicate the analyses, a bed, fam, and bim file are shared to analyse the data in the genetic software PLINK (which was also used in our study).