ClinVar at five years: Delivering on the promise-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

ClinVar at five years: Delivering on the promise

Published:2018-10-11 Issue:11 Volume:39 Page:1623-1630
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Landrum Melissa J.¹^ORCID,Kattman Brandi L.¹

Affiliation:

1. National Center for Biotechnology InformationNational Library of MedicineNational Institutes of Health Bethesda Maryland

Funder

U.S. National Library of Medicine

National Institutes of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23641

Reference30 articles.

1. Laboratory and clinical genomic data sharing is crucial to improving genetic health care: a position statement of the American College of Medical Genetics and Genomics

2. American Medical Association. (2013).Genome analysis and variant identification. Policy D‐460.971.

3. Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing

4. Free the Data: One Laboratory's Approach to Knowledge-Based Genomic Variant Classification and Preparation for EMR Integration of Genomic Data

5. Clinically impactful differences in variant interpretation between clinicians and testing laboratories: a single-center experience

Cited by 165 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. Variant Impact Predictor database (VIPdb), version 2: trends from three decades of genetic variant impact predictors;Human Genomics;2024-08-28

2. Comprehensive classification of TP53 somatic missense variants based on their impact on p53 structural stability;Briefings in Bioinformatics;2024-07-25

3. Genetics of MDH in humans;Essays in Biochemistry;2024-07-22

4. Proteome-scale characterisation of motif-based interactome rewiring by disease mutations;Molecular Systems Biology;2024-07-15

5. Identifying competing endogenous RNA regulatory networks and hub genes in alcoholic liver disease for early diagnosis and potential therapeutic target insights;Aging;2024-05-24

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