Scalable computation of kinship and identity coefficients on large pedigrees.

En Cheng, Brendan Elliott, Z Meral Ozsoyoglu
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Abstract

With the rapidly expanding field of medical genetics and genetic counseling, genealogy information is becoming increasingly abundant. An important computation on pedigree data is the calculation of identity coefficients, which provide a complete description of the degree of relatedness of a pair of individuals. The areas of application of identity coefficients are numerous and diverse, from genetic counseling to disease tracking, and thus, the computation of identity coefficients merits special attention. However, the computation of identity coefficients is not done directly, but rather as the final step after computing a set of generalized kinship coefficients. In this paper, we first propose a novel Path-Counting Formula for calculating generalized kinship coefficients, which is motivated by Wright's path-counting method for computing the inbreeding coefficient for an individual. We then present an efficient and scalable scheme for calculating generalized kinship coefficients on large pedigrees using NodeCodes, a special encoding scheme for expediting the evaluation of queries on pedigree graph structures. We also perform experiments for evaluating the efficiency of our method, and compare it with the performance of the traditional recursive algorithm for three individuals. Experimental results demonstrate that the resulting scheme is more scalable and efficient than the traditional recursive methods for computing generalized kinship coefficients.

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大型家系亲属关系和身份系数的可扩展计算。
随着医学遗传学和遗传咨询领域的迅速发展,家谱信息日益丰富。对系谱数据的一个重要计算是同一性系数的计算,它能完整地描述一对个体的亲缘程度。从遗传咨询到疾病跟踪,身份系数的应用领域非常广泛,因此,身份系数的计算值得特别关注。然而,身份系数的计算不是直接完成的,而是在计算一组广义亲属系数后的最后一步。本文首先提出了一种新的计算广义亲缘关系系数的路径计数公式,该公式受Wright计算个体近交系数的路径计数方法的启发。然后,我们提出了一种高效且可扩展的方案,用于使用NodeCodes计算大型谱系上的广义亲属系数,NodeCodes是一种特殊的编码方案,用于加快对谱系图结构查询的评估。我们还进行了实验来评估我们的方法的效率,并将其与传统的三个体递归算法的性能进行了比较。实验结果表明,该方法比传统的递归方法计算广义亲属系数具有更高的可扩展性和效率。
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