Suppr超能文献

FORGe:对图基因组中的变体进行优先级排序。

FORGe: prioritizing variants for graph genomes.

机构信息

Department of Computer Science, Johns Hopkins University, Baltimore, USA.

Center for Computational Biology, Johns Hopkins University, Baltimore, USA.

出版信息

Genome Biol. 2018 Dec 17;19(1):220. doi: 10.1186/s13059-018-1595-x.

Abstract

There is growing interest in using genetic variants to augment the reference genome into a graph genome, with alternative sequences, to improve read alignment accuracy and reduce allelic bias. While adding a variant has the positive effect of removing an undesirable alignment score penalty, it also increases both the ambiguity of the reference genome and the cost of storing and querying the genome index. We introduce methods and a software tool called FORGe for modeling these effects and prioritizing variants accordingly. We show that FORGe enables a range of advantageous and measurable trade-offs between accuracy and computational overhead.

摘要

人们越来越感兴趣的是使用遗传变异来扩充参考基因组为图基因组,包括替代序列,以提高读段比对的准确性并减少等位基因偏倚。虽然添加变异具有积极作用,可以消除不理想的比对得分惩罚,但它也增加了参考基因组的模糊性,并增加了存储和查询基因组索引的成本。我们介绍了方法和一个名为 FORGe 的软件工具,用于模拟这些效果,并相应地对变体进行优先级排序。我们表明,FORGe 可以在准确性和计算开销之间进行一系列有利且可衡量的权衡。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f71b/6296055/52a3ef5b667a/13059_2018_1595_Fig1_HTML.jpg

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验