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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...

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Autores principales: Liu, Miaosen, Yang, Jian, Duan, Huilong, Yu, Lan, Wu, Dingwen, Li, Haomin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
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.
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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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