Relationships among top-ranking Bi-cliques from Simulated Dataset D2.

Genes are labeled with their frequencies used for simulating the dataset. The designated high risk pattern, marked R, is ranked 8th. Some specializations of R, marked S, are also high risk. Thus, bi-cliques ranked 2, 4, and 7 are specific instances of bi-clique 8, and include 78%, 69%, and 88%, respectively, of the same individuals as bi-clique 8. All confer an approximately two-fold enhanced risk of disease. These patterns all contain the rare allele (7.8%) for G03, plus common alleles of G01, G05, and G08. Thus, the chance of having the designated genotype pattern if the individual has G03 = 0.0782 is 84%, regardless of the genotypes at the other loci. Stated differently, 84% of the individuals in bi-cliques 1, 3, 5, and 6 have the simulated combination of risk-conferring alleles. G03 is the single gene selected by our set covering algorithm to be the most parsimonious description of all the significant risky patterns. Note that patterns containing G03 but not G05, marked T, involve very common genes combined with G03. This makes the population at risk from these patterns a large subset of the population described by G03 alone. Similar effects are seen in datasets D3 and D4.本数据集模拟所涉及的基因均标注了其对应的出现频率。本次研究指定的高风险模式（标记为R）位列第8位。部分以S标记的R模式亚型同样为高风险类型。因此，位列第2、4、7位的双簇(bi-clique)均为第8位双簇的具体实例，其分别包含与第8位双簇相同个体的78%、69%与88%。所有此类模式均会使疾病患病风险提升约两倍。上述所有风险模式均包含G03位点的稀有等位基因(allele)（频率7.8%），以及G01、G05与G08位点的常见等位基因。因此，若个体在G03位点的基因型为0.0782，则无论其他基因座的基因型如何，其携带该指定基因型模式的概率为84%。换言之，在第1、3、5、6位双簇中，有84%的个体携带模拟得到的风险相关等位基因组合。G03是我们通过集合覆盖算法(set covering algorithm)筛选出的唯一基因，可最简约地描述所有具有统计学意义的高风险模式。需注意，以T标记的、包含G03但不含G05的风险模式，是将G03与高频基因组合得到的类型。这意味着此类模式所对应的高风险人群，仅为仅以G03位点定义的高风险人群中的一个庞大子集。类似的结果在D3与D4数据集上同样观测得到。