Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference31 articles.
1. Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation;Abkevich;J Med Gen,2004
2. Use of estimated evolutionary strength at the codon level improves the prediction of disease-related protein mutations in humans;Capriotti;Hum Mutat,2008
3. Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR);Chan;Hum Mutat,2007
4. Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance;Chenevix-Trench;Cancer Res,2006
5. Multiple rare alleles contribute to low plasma levels of HDL cholesterol;Cohen;Science,2004
Cited by 206 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. Hereditary Colorectal Cancer and Polyposis Syndromes Caused by Variants in Uncommon Genes;Genes, Chromosomes and Cancer;2024-08
2. In Silico Prediction of BRCA1 and BRCA2 Variants with Conflicting Clinical Interpretation in a Cohort of Breast Cancer Patients;Genes;2024-07-18
3. Evaluation ofin silico toolsfor variant classification in missense variants of solid cancer with actionable genetic targets;2024-04-22
4. Safety of the Breast Cancer Adjuvant Radiotherapy in Ataxia–Telangiectasia Mutated Variant Carriers;Cancers;2024-04-05
5. GEMIN4 Variants: Risk Profiling, Bioinformatics, and Dynamic Simulations Uncover Susceptibility to Bladder Carcinoma;Archives of Medical Research;2024-04
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