Schwartz Russell, Halldórsson Bjarni V, Bafna Vineet, Clark Andrew G, Istrail Sorin
Celera Genomics Research, Rockville, MD 20850, USA.
J Comput Biol. 2003;10(1):13-9. doi: 10.1089/106652703763255642.
In this report, we examine the validity of the haplotype block concept by comparing block decompositions derived from public data sets by variants of several leading methods of block detection. We first develop a statistical method for assessing the concordance of two block decompositions. We then assess the robustness of inferred haplotype blocks to the specific detection method chosen, to arbitrary choices made in the block-detection algorithms, and to the sample analyzed. Although the block decompositions show levels of concordance that are very unlikely by chance, the absolute magnitude of the concordance may be low enough to limit the utility of the inference. For purposes of SNP selection, it seems likely that methods that do not arbitrarily impose block boundaries among correlated SNPs might perform better than block-based methods.
在本报告中,我们通过比较几种主要的块检测方法的变体从公共数据集得出的块分解,来检验单倍型块概念的有效性。我们首先开发了一种统计方法来评估两种块分解的一致性。然后,我们评估推断的单倍型块对于所选特定检测方法、块检测算法中任意选择以及所分析样本的稳健性。尽管块分解显示出的一致性水平极不可能是偶然出现的,但一致性的绝对程度可能低到足以限制推断的效用。对于单核苷酸多态性(SNP)选择而言,那些不在相关SNP之间任意强加块边界的方法可能比基于块的方法表现更好。