人类基因组序列变异信息含量的一种新的生物物理度量：概念验证
A New Biophysical Metric for Interrogating the Information Content in Human Genome Sequence Variation: Proof of Concept
摘要：
各种研究表明单核苷酸多态性（SNP）与常见疾病之间存在关联。我们推测，编码在SNP单块变异的结构中的信息照亮了参与调节宿主对环境的适应的分子途径和细胞机制。我们开发并利用了归一化信息含量（NIC），一种新的基于SNP单块变异的度量。我们发现，所有统计学上信息含量较低的SNP单倍块都含有推定的转录因子结合位点和microRNA基序。我们能够通过分析与SNP单块变异相关的生化模式，将常见变异的生物物理学和数学测量转化为对生命科学的更深入理解。我们提出，这种新的度量，NIC，可能是有用的解码在人类基因组中的常见变异的功能意义，并在分析参与宿主适应环境病原体的分子途径的调节。
英文摘要：
Various studies have shown an association between single nucleotide polymorphisms (SNPs) and common disease. We hypothesize that information encoded in the structure of SNP haploblock variation illumines molecular pathways and cellular mechanisms involved in the regulation of host adaptation to the environment. We developed and utilized the normalized information content (NIC), a novel metric based on SNP haploblock variation. We found that all SNP haploblocks with statistically low information content contained putative transcription factor binding sites and microRNA motifs. We were able to translate a biophysical, mathematical measure of common variants into a deeper understanding of the life sciences through analysis of biochemical patterns associated with SNP haploblock variation. We submit that this new metric, NIC, may be useful in decoding the functional significance of common variation in the human genome and in analyzing the regulation of molecular pathways involved in host adaptation to environmental pathogens.
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