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This project focuses on genome-wide association studies (GWAS), aiding in genetic diagnostics development for diseases. While human DNA sequences are mostly identical, variations can significantly influence disease risks, with single-nucleotide polymorphisms (SNPs) being key markers of such variations. SNPs occur in blocks on chromosomes, forming haplotypes. The HapMap project maps these blocks and simplifies genome examination. We analyze HapMap data of 90 Asian HapMap individuals with the PLINK software and create Manhattan plots with R. All files from this chapter are available from the book’s GitHub repository at CompBiol3/24_GWAS .

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Genome-Wide Association Studies (GWAS)

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  • 发表日期：

    2025年

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  • Röbbe Wünschiers

摘要

This project focuses on genome-wide association studies (GWAS), aiding in genetic diagnostics development for diseases. While human DNA sequences are mostly identical, variations can significantly influence disease risks, with single-nucleotide polymorphisms (SNPs) being key markers of such variations. SNPs occur in blocks on chromosomes, forming haplotypes. The HapMap project maps these blocks and simplifies genome examination. We analyze HapMap data of 90 Asian HapMap individuals with the PLINK software and create Manhattan plots with R. All files from this chapter are available from the book’s GitHub repository at CompBiol3/24_GWAS .