Published February 15, 2017 | Version v1.0
Dataset Restricted

Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip ± cleft palate and cleft palate only.

  • 1. Institute of Human Genetics, University Hospital Bonn

Description

This dataset contains summary statistics of imputed genome-wide association study (GWAS) for nonsyndromic cleft lip with or without cleft palate (nsCL/P). The GWAS contains 399 cases with nsCL/P and 1,318 controls of Central European descent, and includes 8,820,921 autosomal SNPs. Details on sample recruitment/characteristics and genotyping can be found in Mangold et al. 2010 (PMID: 20023658). Further details on imputation can be found in Ludwig et al. 2017 (PMID: 28087736), and information on data structure is provided in the Additional Notes.

Notes

Data contain summary statistics for 8,820,921 autosomal SNPs with info scores >=0.4. Header is as follows: chr_pos (i.e., hg19) rsid RA (i.e., risk allele) OA (i.e., other allele) cases_freq_RA controls_freq_RA pvalue info beta se(beta)

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Data use is restricted due to limited informed consent provided by the study participants. Hereby, [DATA] is defined as summary statistics of imputed dataset from a genome-wide association study in 399 patients with nonsyndromic cleft lip with or without cleft palate and 1318 controls (Mangold et al., 2010, Nature Genetics; Ludwig et al. 2017).

Prior to data use, researchers that request this data set [DATA USER] have to provide a research plan [RESEARCH PLAN] describing the aim of the study. This has to be provided to [AUTHORS] and will be checked for compliance with informed consents. Upon positive evaluation, an official agreement needs to be accepted and signed by both [DATA USER] and [AUTHORS] before the data can be downloaded. General conditions are:

  • Use of these DATA is strictly restricted to the RESEARCH PLAN.
  • Use of DATA is strictly restricted to DATA USER, no distribution of DATA to any other groups is allowed.
  • DATA will be deleted after the RESEARCH PLAN agreed upon is finished.
  • DATA is to be used only for the academic purposes as described in the RESEARCH PLAN; DATA will not be used for commercial purposes. 

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