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Parliament2: Accurate structural variant calling at scale
GigaScience ( IF 11.8 ) Pub Date : 2020-12-21 , DOI: 10.1093/gigascience/giaa145
Samantha Zarate 1, 2 , Andrew Carroll 1 , Medhat Mahmoud 3 , Olga Krasheninina 3 , Goo Jun 4 , William J Salerno 3 , Michael C Schatz 2 , Eric Boerwinkle 3, 4 , Richard A Gibbs 3 , Fritz J Sedlazeck 3
Affiliation  

Structural variants (SVs) are critical contributors to genetic diversity and genomic disease. To predict the phenotypic impact of SVs, there is a need for better estimates of both the occurrence and frequency of SVs, preferably from large, ethnically diverse cohorts. Thus, the current standard approach requires the use of short paired-end reads, which remain challenging to detect, especially at the scale of hundreds to thousands of samples.

中文翻译:


Parliament2:大规模准确的结构变体调用



结构变异(SV)是遗传多样性和基因组疾病的关键因素。为了预测 SV 的表型影响,需要更好地估计 SV 的发生和频率,最好是来自大型、种族不同的群体。因此,当前的标准方法需要使用短的双端读取,这仍然难以检测,特别是在数百到数千个样本的规模下。
更新日期:2020-12-21
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