The Curation of Genetic Variants: Difficulties and Possible Solutions
Author:
Publisher
Elsevier BV
Subject
Computational Mathematics,Genetics,Molecular Biology,Biochemistry
Reference36 articles.
1. MutaDATABASE: a centralized and standardized DNA variation database;Bale;Nat Biotech,2011
2. Improving sequence variant descriptions in variant databases and literature using the Mutalyzer sequence variation nomenclature checker;Wildeman;Hum Mutat,2008
3. The future of text mining in genome-based clinical research;Gieger;Biosilico,2003
4. Mining the biomedical literature in the genomic era: an overview;Shatkay;J Comput Biol,2003
5. Semi-automated curation of protein subcellular localization: a text mining-based approach to Gene Ontology (GO) Cellular Component curation;Van Auken;BMC Bioinformatics,2009
Cited by 19 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Significance of utilizing in silico structural analysis and phenotypic data to characterize phenylalanine hydroxylase variants: A PAH landscape;Molecular Genetics and Metabolism;2024-07
2. Variant curation and interpretation in hereditary cancer genes: An institutional experience in Latin America;Molecular Genetics & Genomic Medicine;2023-03-10
3. A Boolean algebra for genetic variants;Bioinformatics;2023-01-01
4. AnFiSA: An open-source computational platform for the analysis of sequencing data for rare genetic disease;Journal of Biomedical Informatics;2022-09
5. Challenges in variant interpretation in prenatal exome sequencing;European Journal of Medical Genetics;2022-02
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3