Locus-specific database domain and data content analysis: evolution and content maturation toward clinical usea
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21332/fullpdf
Reference22 articles.
1. McKusick's Online Mendelian Inheritance in Man (OMIM);Amberger;Nucleic Acids Res,2009
2. UMD (Universal Mutation Database): 2005 update;Béroud;Hum Mutat,2005
3. Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases;Claustres;Genome Res,2002
4. Capturing all disease-causing mutation for clinical and research use: towards an effortless system for the human variome project;Cotton;Genet Med,2009
5. Nomenclature for the description of human sequence variations;den Dunnen;Hum Genet,2001
Cited by 39 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. An overview of key online resources for human genomics: a powerful and open toolbox for in silico research;Briefings in Functional Genomics;2024-07-12
2. Global Globin Network and adopting genomic variant database requirements for thalassemia;Database;2024
3. Clinically relevant updates of the HbVar database of human hemoglobin variants and thalassemia mutations;Nucleic Acids Research;2020-10-30
4. Documentation of clinically relevant genomic biomarker allele frequencies in the next‐generation FINDbase worldwide database;Human Mutation;2020-04-14
5. Translational Tools and Databases in Genomic Medicine;Applied Genomics and Public Health;2020
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