Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
Nat Genet. 2015 Aug;47(8):853-5. doi: 10.1038/ng.3364.
A major challenge in human genetics is pinpointing which non-coding genetic variants affect gene expression and disease risk. A new study in this issue describes a broadly applicable approach for this task that explicitly models cell type-specific regulatory motifs and generates variant effect predictions that are more accurate and interpretable than those of alternative tools.
人类遗传学的一个主要挑战是精确定位哪些非编码遗传变异会影响基因表达和疾病风险。本期杂志中的一项新研究描述了一种广泛适用的方法，该方法明确地模拟了细胞类型特异性的调控基序，并生成了比其他工具更准确和可解释的变异效应预测。
