GWAS 和disease 相关
大部分疾病的GWAS位点位于基因组的non-coding区域，假设nocoding variants是通过在特异性细胞类型中改变转录调控元件来影响疾病的。
关于疾病研究的热点：Whereas innovative approaches to distinguish causal variants 69 from local variants in linkage disequilibrium (LD) using fine mapping (Wakefield, 2009), and to link 70 variants to target genes using co-accessibility of open chromatin regions in single cells (Pliner et al., 2018) or 3-dimensional chromosomal contact-based linkage scores (Nasser et al., 2020), have made important strides toward the prioritization of causal variants and the prediction of their 73 target genes, the annotation of candidate cis-regulatory elements (cCREs) in discrete human cell 74 types has posed a longstanding technical challenge.
关键词解析
causal variants
linkeage disequilibrium
fine mapping
Stromal cells frequently amplified a region containing cell-cycle
inhibitors Cdkn2a, Cdkn2b, and Cdkn2c, and frequently lost a
region contained Cdk13, which promotes cell cycling, and
Mapk9, loss of which promotes apoptosis. These genomic alterations
may reflect and contribute to stromal cell function.