The individual and global impact of copy number variants on complex human traits.

Published: 7 February 2022| Version 1 | DOI: 10.17632/z54dc3b6jz.1
Contributor:
Chiara Auwerx

Description

Supplementary data for the manuscript "The individual and global impact of copy number variants on complex human traits" by Auwerx et al. 2022, in a compressed format: CNV frequency data: "SD1_Auwerx_2022_CNV_Frequency_UKBB.txt.zip" and "SD2_Auwerx_2022_CNV_Frequency_EstBB.txt.zip" contain probe-level CNV frequency data for the UK Biobank and Estonian Biobank, respectively. Columns indicate probe identifier (ID), genomic position (CHR, POS), number of CNV (NumCNV), duplication (NumDup), and deletion (NumDel) carriers, as well as the number of copy neutral individuals (NumNeutral) for each probe. These were used to calculate CNV (FreqCNV), duplication (FreqDup), and deletion (FreqDel) frequencies as described in the methods of the associated manuscript. CNV-GWAS summary statistics data: "SD3_Auwerx_2022_CNV_GWAS_SummaryStats_Mirror.txt.zip", "SD4_Auwerx_2022_CNV_GWAS_SummaryStats_DuplicationOnly.txt.zip", and "SD5_Auwerx_2022_CNV_GWAS_SummaryStats_DeletionOnly.txt.zip" contain the grouped summary statistics for the CNV-GWAS performed according to a mirror, duplication-only, and deletion-only association model (see methods of the associated manuscript), respectively, performed for 57 continuous traits in the UK Biobank. Files follow the PLINK v2 output format from the --glm function. Column indicates the phenotype (PHENO), probe genomic position (CHR, POS), rs number (ID), alleles (standardized to A1 = T), sample size (OBS_CT), effect size in standard deviations (BETA), the standard error (SE) and 95% confidence interval (L95, U95) of the estimated BETA, the test statistic (T_STAT), p-value (P), and possible error code (ERRCODE) for each performed linear regression .

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Steps to reproduce

Detailed description of the methodology used to generate these files is available in the Material and Methods section of "The individual and global impact of copy number variants on complex human traits" (Auwerx et al., 2022).

Categories

Genetics, Bioinformatics, Biomarkers, Genome Wide Association Study

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