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3DSNP
2.0
3DSNP 2.0: update and expansion of the noncoding genomic variant annotation database
ID:72263Uploader:蔡洁仪
2022.06.06
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Abstract
The rapid development of single-molecule long-read sequencing (LRS) and single-cell assay for transposase accessible chromatin sequencing (scATAC-seq) technologies presents both challenges and opportunities for the annotation of noncoding variants. Here, we updated 3DSNP, a comprehensive database for human noncoding variant annotation, to expand its applications to structural variation (SV) and to implement variant annotation down to single-cell resolution. The updates of 3DSNP include (i) annotation of 108 317 SVs from a full spectrum of functions, especially their potential effects on three-dimensional chromatin structures, (ii) evaluation of the accessible chromatin peaks flanking the variants across 126 cell types/subtypes in 15 human fetal tissues and 54 cell types/subtypes in 25 human adult tissues by integrating scATAC-seq data and (iii) expansion of Hi-C data to 49 human cell types. In summary, this version is a significant and comprehensive improvement over the previous version. The 3DSNP v2.0 database is freely available at https://omic.tech/3dsnpv2/.
Keywords
human noncoding variant annotation; structural variation; single-cell resolution
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Publication
3DSNP 2.0: update and expansion of the noncoding genomic variant annotation database
Cheng Quan,Jie Ping,Hao Lu,Gangqiao Zhou,Yiming LuNucleic Acids Research. 2022
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Documentation
The rapid development of single-molecule sequencing and single-cell ATAC (assay for transposase accessible chromatin) sequencing (scATAC-seq) techniques presents new challenges and opportunities for the annotation of human noncoding variants. Here, we updated 3DSNP, a comprehensive database for human noncoding variants annotation, to expand its applications to structural variation (SV) and to zoom variants annotation into the single-cell resolution.
API: https://www.omic.tech/wordpress/3dsnp-v2-0-api/
Tutorials: https://www.omic.tech/wordpress/3dsnp-v2-0-tutorials/
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Genetic variation
Genome annotation
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