Kumaragurubaran P, Trupti Bodhare, Samir Bele, Vijaya Ramanathan, Thendral Muthiah, Gavin Francis, Ramji M
Perceptions and Experiences of Healthcare Providers and Patients Towards Digital Health Services in Primary Health Care: A Cross-Sectional Study
Cureus
heritability human diseases extremely enriched candidate regulatory elements cre diseaserelevant cell types critical next steps infer many cell types truly causal disease accounting coregulation across cell types understand individual variants impact disease risk single multiple causal cell types propose ctfm ctfmsnp two methods leverage celltypespecific cres finemap causal cell types trait candidate causal variants respectively applied ctfm 63 gwas summary statistics average n 417k using nearly one thousand cre annotations primarily coming encode4 ctfm inferred 81 causal cell types corresponding snpannotations explaining high fraction trait snpheritability 23 snpheritability explained existing cres identified 16 traits multiple causal cell types highlighted celldisease relationships consistent known biology uncovered previously unexplored cellular mechanisms psychiatric immunerelated diseases finally applied ctfmsnp 39 uk biobank traits predicted high confidence causal cell types 2798 candidate causal noncoding snps results suggest snps impact phenotype single cell type pleiotropic snps target different cell types depending phenotype context altogether ctfm ctfmsnp shed light genetic variants act collectively individually cellular level impact disease risk