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首页> 外文会议>International Conference on Bioinformatics Models, Methods and Algorithms >Homozygosity Mapping using Whole-Exome Sequencing: A Valuable Approach for Pathogenic Variant Identification in Genetic Diseases
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Homozygosity Mapping using Whole-Exome Sequencing: A Valuable Approach for Pathogenic Variant Identification in Genetic Diseases

机译：纯合子映射使用全exome测序：一种有价值的遗传疾病致病变异鉴定的方法

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In the human genome, there are homozygous regions presenting as sizeable stretches, or 'runs' of homozygosity (ROH). The length of these ROH is dependent on the degree of shared parental ancestry, being longer in individuals descending from consanguineous marriages or those from isolated populations. Homozygosity mapping is a powerful tool in clinical genetics. It relies on the assumption that, due to identity-by-descent, individuals affected by a recessive disease are likely to have homozygous markers surrounding the disease locus. Consequently, the analysis of ROH shared by affected individuals in the same kindred often helps to identify the disease-causing gene. However, scanning the entire genome for blocks of homozygosity, especially in sporadic cases, is not a straight-forward task. Whole-exome sequencing (WES) has been shown to be an effective approach for finding pathogenic variants, particularly in highly heterogeneous genetic diseases. Nevertheless, the huge amount of data, especially variants of unknown clinical significance, and the presence of false-positives due to sequencing artifacts, makes WES analysis complex. This paper briefly reviews the different algorithms and bioinformatics tools available for ROH identification. We emphasize the importance of performing ROH analysis using WES data as an effective way to improve diagnostic yield.
机译：在人类基因组中，有纯合的区域呈现均匀的延伸，或“润载”（ROH）的“运行”。这些ROH的长度取决于共享父母血统的程度，在临近婚姻或来自孤立群体中的人下降的人中更长。纯合理测绘是临床遗传学的强大工具。它依赖于假设，由于逐下身份，受隐性疾病影响的个体可能具有围绕疾病基因座的纯合标记物。因此，由受影响的个体以相同的视野共享的RoH分析通常有助于鉴定疾病引起的基因。然而，扫描整个基因组的纯合子块，特别是在散发性情况下，不是一项直接任务。已经证明了全面测序（WES）是寻找致病变异的有效方法，特别是在高度异质的遗传疾病中。然而，大量数据，尤其是未知临床意义的变体，以及由于测序伪像而存在假阳性，使WES分析复合物。本文简要介绍了可用于RoH识别的不同算法和生物信息学工具。我们强调使用WES数据作为提高诊断产量的有效方法来进行ROH分析的重要性。

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