A collection of read depth profiles at structural variant breakpoints

被引:1
作者
Bezdvornykh, Igor [1 ]
Cherkasov, Nikolay [1 ]
Kanapin, Alexander [1 ]
Samsonova, Anastasia [1 ]
机构
[1] St Petersburg State Univ, Inst Translat Biomed, St Petersburg 199004, Russia
基金
俄罗斯科学基金会;
关键词
D O I
10.1038/s41597-023-02076-4
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
SWaveform, a newly created open genome-wide resource for read depth signal in the vicinity of structural variant (SV) breakpoints, aims to boost development of computational tools and algorithms for discovery of genomic rearrangement events from sequencing data. SVs are a dominant force shaping genomes and substantially contributing to genetic diversity. Still, there are challenges in reliable and efficient genotyping of SVs from whole genome sequencing data, thus delaying translation into clinical applications and wasting valuable resources. SWaveform includes a database containing similar to 7 M of read depth profiles at SV breakpoints extracted from 911 sequencing samples generated by the Human Genome Diversity Project, generalised patterns of the signal at breakpoints, an interface for navigation and download, as well as a toolbox for local deployment with user's data. The dataset can be of immense value to bioinformatics and engineering communities as it empowers smooth application of intelligent signal processing and machine learning techniques for discovery of genomic rearrangement events and thus opens the floodgates for development of innovative algorithms and software.
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页数:9
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