Exceptions to the rule: Case studies in the prediction of pathogenicity for genetic variants in hereditary cancer genes
Author:
Affiliation:
1. Myriad Genetic Laboratories, Inc. Salt Lake City UT USA
Funder
Myriad Genetics
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.12560
Reference26 articles.
1. ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
2. A comprehensive laboratory‐based program for classification of variants of uncertain significance in hereditary cancer genes
3. Genetic evidence and integration of various data sources for classifying uncertain variants into a single model
4. A Systematic Genetic Assessment of 1,433 Sequence Variants of Unknown Clinical Significance in the BRCA1 and BRCA2 Breast Cancer–Predisposition Genes
5. Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes
Cited by 26 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. Tracking updates in clinical databases increases efficiency for variant reanalysis;Genetics in Medicine Open;2024
2. Comprehensive RNA and protein functional assessments contribute to the clinical interpretation ofMSH2variants causing in-frame splicing alterations;Journal of Medical Genetics;2022-09-16
3. Reanalysis of eMERGE phase III sequence variants in 10,500 participants and infrastructure to support the automated return of knowledge updates;Genetics in Medicine;2022-02
4. Catastrophic chemotherapy toxicity leading to diagnosis of Fanconi anaemia due to FANCD1/BRCA2 during adulthood: description of an emerging phenotype;Journal of Medical Genetics;2021-10-25
5. The Science and Art of Clinical Genetic Variant Classification and Its Impact on Test Accuracy;Annual Review of Genomics and Human Genetics;2021-08-31
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