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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2021
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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/. |
format | Online Article Text |
id | pubmed-8728236 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
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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