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Fig. 1 | BMC Genomics

Fig. 1

From: Exploring quantitative traits-associated copy number deletions through reanalysis of UK10K consortium whole genome sequencing cohorts

Fig. 1

(A) QQ plot and (B) Manhattan plot of uric acid associated copy number deletions. Two deletions passing experiment-wide significance are marked with red circles. (C) nssv15888957 and nssv15888975 copy number deletions are associated with lower and higher serum uric acid levels, respectively. (D) Fine mapping analysis of deletions and SNVs in linkage disequilibrium with nssv15888957. Variants were colored by the category of linkage disequilibrium R2 values with respect to nssv15888957. It demonstrates that nssv15888957 forms a 254 kb-ranging haplotype block in strong linkage disequilibrium with 224 SNVs. Upper panel shows LocusZoom plot and lower panel is from UCSC genome browser annotated with histone marks and GeneHancer reported regulatory elements

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