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000143881 1001_ $$00000-0003-0977-2771$$avan de Putte, Romy$$b0
000143881 245__ $$aExome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations.
000143881 260__ $$aSan Francisco, California, US$$bPLOS$$c2019
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000143881 520__ $$aAnorectal malformations (ARM) are rare congenital malformations, resulting from disturbed hindgut development. A genetic etiology has been suggested, but evidence for the involvement of specific genes is scarce. We evaluated the contribution of rare and low-frequency coding variants in ARM etiology, assuming a multifactorial model.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. GenomeStudio clustering and calling was followed by re-calling of 'no-calls' using zCall for patients and controls simultaneously. Single variant and gene-based analyses were performed to identify statistically significant associations, applying Bonferroni correction. Following an extra quality control step, candidate variants were selected for validation using Sanger sequencing.When we applied a MAF of ≥1.0%, no variants or genes showed statistically significant associations with ARM. Using a MAF cut-off at 0.4%, 13 variants initially reached statistical significance, but had to be discarded upon further inspection: ten variants represented calling errors of the software, while the minor alleles of the remaining three variants were not confirmed by Sanger sequencing.Our results show that rare and low-frequency coding variants with large effect sizes, present on the exome chip do not contribute to ARM etiology.
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000143881 7001_ $$aWijers, Charlotte H W$$b1
000143881 7001_ $$aReutter, Heiko$$b2
000143881 7001_ $$aVermeulen, Sita H$$b3
000143881 7001_ $$aMarcelis, Carlo L M$$b4
000143881 7001_ $$aBrosens, Erwin$$b5
000143881 7001_ $$aBroens, Paul M A$$b6
000143881 7001_ $$aHomberg, Markus$$b7
000143881 7001_ $$aLudwig, Michael$$b8
000143881 7001_ $$0P:(DE-He78)949e730cbc09d0e60687edbab1755d60$$aJenetzky, Ekkehart$$b9$$udkfz
000143881 7001_ $$aZwink, Nadine$$b10
000143881 7001_ $$aSloots, Cornelius E J$$b11
000143881 7001_ $$ade Klein, Annelies$$b12
000143881 7001_ $$aBrooks, Alice S$$b13
000143881 7001_ $$aHofstra, Robert M W$$b14
000143881 7001_ $$aHolsink, Sophie A C$$b15
000143881 7001_ $$avan der Zanden, Loes F M$$b16
000143881 7001_ $$aGalesloot, Tessel E$$b17
000143881 7001_ $$aTam, Paul Kwong-Hang$$b18
000143881 7001_ $$aSteehouwer, Marloes$$b19
000143881 7001_ $$aAcuna-Hidalgo, Rocio$$b20
000143881 7001_ $$aVorst, Maartje van de$$b21
000143881 7001_ $$aKiemeney, Lambertus A$$b22
000143881 7001_ $$aGarcia-Barceló, Maria-Mercè$$b23
000143881 7001_ $$ade Blaauw, Ivo$$b24
000143881 7001_ $$aBrunner, Han G$$b25
000143881 7001_ $$aRoeleveld, Nel$$b26
000143881 7001_ $$avan Rooij, Iris A L M$$b27
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