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3DSNP 2.0: update and expansion of the noncoding genomic variant annotation database

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 fo...

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Detalles Bibliográficos
Autores principales: Quan, Cheng, Ping, Jie, Lu, Hao, Zhou, Gangqiao, Lu, Yiming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8728236/
https://www.ncbi.nlm.nih.gov/pubmed/34723317
http://dx.doi.org/10.1093/nar/gkab1008
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author Quan, Cheng
Ping, Jie
Lu, Hao
Zhou, Gangqiao
Lu, Yiming
author_facet Quan, Cheng
Ping, Jie
Lu, Hao
Zhou, Gangqiao
Lu, Yiming
author_sort Quan, Cheng
collection PubMed
description 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/.
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spelling pubmed-87282362022-01-05 3DSNP 2.0: update and expansion of the noncoding genomic variant annotation database Quan, Cheng Ping, Jie Lu, Hao Zhou, Gangqiao Lu, Yiming Nucleic Acids Res Database Issue 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/. Oxford University Press 2021-11-01 /pmc/articles/PMC8728236/ /pubmed/34723317 http://dx.doi.org/10.1093/nar/gkab1008 Text en © The Author(s) 2021. Published by Oxford University Press on behalf of Nucleic Acids Research. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Database Issue
Quan, Cheng
Ping, Jie
Lu, Hao
Zhou, Gangqiao
Lu, Yiming
3DSNP 2.0: update and expansion of the noncoding genomic variant annotation database
title 3DSNP 2.0: update and expansion of the noncoding genomic variant annotation database
title_full 3DSNP 2.0: update and expansion of the noncoding genomic variant annotation database
title_fullStr 3DSNP 2.0: update and expansion of the noncoding genomic variant annotation database
title_full_unstemmed 3DSNP 2.0: update and expansion of the noncoding genomic variant annotation database
title_short 3DSNP 2.0: update and expansion of the noncoding genomic variant annotation database
title_sort 3dsnp 2.0: update and expansion of the noncoding genomic variant annotation database
topic Database Issue
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8728236/
https://www.ncbi.nlm.nih.gov/pubmed/34723317
http://dx.doi.org/10.1093/nar/gkab1008
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