关键词：
genetic variants
development complex diseases
genomic
transcriptomic
non coding variants
epigenomic
gene expression regulation
trans omics
摘要：
Genetic variants in the non-coding regions of the genome can significantly influence gene expression and regulation through various mechanisms,including altering transcription factor(TF)binding,histone modifications,and chromatin *** mechanisms are increasingly recognized as playing crucial roles in the development of complex diseases[1,2].To comprehensively understand the functional impact of non-coding variants,it is essential to integrate genomic,transcriptomic,epigenomic,and proteomic *** advent of high-throughput sequencing technologies and the availability of large-scale genomic,transcriptomic,proteomics and epigenomic data have greatly facilitated the annotation and interpretation of non-coding variants from a trans-omics perspective,enabling a more comprehensive understanding of their functional ***,most current studies examining the effects of genetic variants rely on data from a single or limited number of layers,such as GREEN-DB(primarily focuses on regulatory)[3],GWAVA(based on ENCODE/GENCODE,evolutionary conservation and GC-content)[4],RegulomeDB(seven data types including TF binding sites,chromatin states,TF motifs,Footprints,eQTLs and caQTLs)[5],etc.
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中文科技期刊
