An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar

Published:2019-01-01 Issue: Volume:2019 Page:
ISSN:1758-0463
Container-title:Database
language:en
Short-container-title:

Author:

Famiglietti M L¹^ORCID,Estreicher A¹^ORCID,Breuza L¹^ORCID,Poux S¹^ORCID,Redaschi N¹^ORCID,Xenarios I²^ORCID,Bridge A¹^ORCID,

Affiliation:

1. Swiss-Prot Group, SIB Swiss Institute of Bioinformatics, CMU, Geneva 4, Switzerland

2. University of Lausanne, Lausanne, Switzerland

Funder

National Science Foundation

State Secretariat for Education, Research and Innovation

National Institute of General Medical Sciences

National Human Genome Research Institute

National Institutes of Health

Publisher

Oxford University Press (OUP)

Subject

General Agricultural and Biological Sciences,General Biochemistry, Genetics and Molecular Biology,Information Systems

Link

http://academic.oup.com/database/article-pdf/doi/10.1093/database/baz040/28258086/baz040.pdf

Reference40 articles.

1. Guidelines for investigating causality of sequence variants in human disease;MacArthur;Nature,2014

2. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet. Med.,2015

3. Standards and guidelines for the interpretation and reporting of sequence variants in cancer: a joint consensus recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists;Li;J. Mol. Diagn.,2017

4. Guidelines for diagnostic next-generation sequencing;Matthijs;Eur. J. Hum. Genet.,2016

5. ClinVar: improving access to variant interpretations and supporting evidence;Landrum;Nucleic Acids Res.,2018

Cited by 9 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. Elucidating the Differential Impacts of Equivalent Gating-Charge Mutations in Voltage-Gated Sodium Channels;2024-09-10

2. Developmental Dynamics of the Gut Virome in Tibetan Pigs at High Altitude: A Metagenomic Perspective across Age Groups;Viruses;2024-04-14

3. Unsupervised learning reveals landscape of local structural motifs across protein classes;2023-12-05

4. The First Genome Sequence Resource of Tilletia setariae, the Causal Agent of Foxtail Millet Stinking Smut Disease;Phytopathology®;2022-12

5. UniProt: the universal protein knowledgebase in 2021;Nucleic Acids Research;2020-11-25

同舟云学术

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