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Prioritizing single-nucleotide polymorphisms and variants associated with clinical mastitis

机译:优先考虑与临床乳腺炎相关的单核苷酸多态性和变异

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摘要

Next-generation sequencing technology has provided resources to easily explore and identify candidate single-nucleotide polymorphisms (SNPs) and variants. However, there remains a challenge in identifying and inferring the causal SNPs from sequence data. A problem with different methods that predict the effect of mutations is that they produce false positives. In this hypothesis, we provide an overview of methods known for identifying causal variants and discuss the challenges, fallacies, and prospects in discerning candidate SNPs. We then propose a three-point classification strategy, which could be an additional annotation method in identifying causalities.
机译:下一代测序技术为轻松探索和鉴定候选单核苷酸多态性(SNP)和变异提供了资源。然而,在从序列数据中鉴定和推断因果SNP方面仍然存在挑战。预测突变效果的不同方法的一个问题是它们会产生假阳性。在此假设中,我们提供了识别因果变异的已知方法的概述,并讨论了识别候选SNP的挑战,谬误和前景。然后,我们提出了一种三点分类策略,该策略可以作为识别因果关系的附加注释方法。

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