Deciphering the tissue-specific functional effect of Alzheimer risk SNPs with deep genome annotation.

ABSTRACT: Alzheimer's disease (AD) is a highly heritable brain dementia, along with substantial failure of cognitive function. Large-scale genome-wide association studies (GWASs) have led to a set of SNPs significantly associated with AD and related traits. GWAS hits usually emerge as clusters where a lead SNP with the highest significance is surrounded by other less significant neighboring SNPs. Although functionality is not guaranteed even with the strongest associations in GWASs, lead SNPs have historically been the focus of the field, with the remaining associations inferred to be redundant. Recent deep genome annotation tools enable the prediction of function from a segment of a DNA sequence with significantly improved precision, which allows in-silico mutagenesis to interrogate the functional

SUBMITTER: Pugalenthi PV 

PROVIDER: S-EPMC11558841 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature