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Summary

Genome-wide association studies (GWAS) identify regions with associated genetic variants, but rarely pinpoint a specific gene, making it difficult to understand the genes contributing to complex traits and diseases. To address this, researchers used ChIP-seq data on many transcription factors to identify genetic variants in HepG2 and HeLa-S3 cell lines that show a genome-wide significant difference in binding between alleles. They identified 3713 candidate functional regulatory variants, many of which are likely drivers of GWAS signals or genetic differences in expression. This approach can help find the functional regulatory elements that affect gene activity, which is an important step towards defining disease mechanisms.

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Genome-wide association studies (GWAS) identify regions with associated genetic variants, but rarely pinpoint a specific gene, making it difficult to...

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  • File Format: PDF
  • File Size: 675 KB
  • Pages: 7
  • Language: EN
  • Total Downloads: 493
  • Last Updated: 7 hours ago

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