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SNPMap—An integrated visual SNP interpretation tool
New technologies, such as next-generation sequencing, have advanced the ability to diagnose diseases and improve prognosis but require the identification of thousands of variants in each report based on several databases scattered across places. Curating an integrated interpretation database is time...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9437274/ https://www.ncbi.nlm.nih.gov/pubmed/36061173 http://dx.doi.org/10.3389/fgene.2022.985500 |
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author | Liu, Miaosen Yang, Jian Duan, Huilong Yu, Lan Wu, Dingwen Li, Haomin |
author_facet | Liu, Miaosen Yang, Jian Duan, Huilong Yu, Lan Wu, Dingwen Li, Haomin |
author_sort | Liu, Miaosen |
collection | PubMed |
description | New technologies, such as next-generation sequencing, have advanced the ability to diagnose diseases and improve prognosis but require the identification of thousands of variants in each report based on several databases scattered across places. Curating an integrated interpretation database is time-consuming, costly, and needs regular update. On the other hand, the automatic curation of knowledge sources always results in overloaded information. In this study, an automated pipeline was proposed to create an integrated visual single-nucleotide polymorphism (SNP) interpretation tool called SNPMap. SNPMap pipelines periodically obtained SNP-related information from LitVar, PubTator, and GWAS Catalog API tools and presented it to the user after extraction, integration, and visualization. Keywords and their semantic relations to each SNP are rendered into two graphs, with their significance represented by the size/width of circles/lines. Moreover, the most related SNPs for each keyword that appeared in SNPMap were calculated and sorted. SNPMap retains the advantage of an automatic process while assisting users in accessing more lucid and detailed information through visualization and integration with other materials. |
format | Online Article Text |
id | pubmed-9437274 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-94372742022-09-03 SNPMap—An integrated visual SNP interpretation tool Liu, Miaosen Yang, Jian Duan, Huilong Yu, Lan Wu, Dingwen Li, Haomin Front Genet Genetics New technologies, such as next-generation sequencing, have advanced the ability to diagnose diseases and improve prognosis but require the identification of thousands of variants in each report based on several databases scattered across places. Curating an integrated interpretation database is time-consuming, costly, and needs regular update. On the other hand, the automatic curation of knowledge sources always results in overloaded information. In this study, an automated pipeline was proposed to create an integrated visual single-nucleotide polymorphism (SNP) interpretation tool called SNPMap. SNPMap pipelines periodically obtained SNP-related information from LitVar, PubTator, and GWAS Catalog API tools and presented it to the user after extraction, integration, and visualization. Keywords and their semantic relations to each SNP are rendered into two graphs, with their significance represented by the size/width of circles/lines. Moreover, the most related SNPs for each keyword that appeared in SNPMap were calculated and sorted. SNPMap retains the advantage of an automatic process while assisting users in accessing more lucid and detailed information through visualization and integration with other materials. Frontiers Media S.A. 2022-08-19 /pmc/articles/PMC9437274/ /pubmed/36061173 http://dx.doi.org/10.3389/fgene.2022.985500 Text en Copyright © 2022 Liu, Yang, Duan, Yu, Wu and Li. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Genetics Liu, Miaosen Yang, Jian Duan, Huilong Yu, Lan Wu, Dingwen Li, Haomin SNPMap—An integrated visual SNP interpretation tool |
title | SNPMap—An integrated visual SNP interpretation tool |
title_full | SNPMap—An integrated visual SNP interpretation tool |
title_fullStr | SNPMap—An integrated visual SNP interpretation tool |
title_full_unstemmed | SNPMap—An integrated visual SNP interpretation tool |
title_short | SNPMap—An integrated visual SNP interpretation tool |
title_sort | snpmap—an integrated visual snp interpretation tool |
topic | Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9437274/ https://www.ncbi.nlm.nih.gov/pubmed/36061173 http://dx.doi.org/10.3389/fgene.2022.985500 |
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