Management of Secondary Genomic Findings
Author:
Funder
National Human Genome Research Institute
National Institutes of Health Director’s Challenge Award
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics
Reference50 articles.
1. ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing;Genet. Med.,2015
2. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing;Green;Genet. Med.,2013
3. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics;Kalia;Genet. Med.,2017
4. Multi-Gene Panel Testing of 23,179 Individuals for Hereditary Cancer Risk Identifies Pathogenic Variant Carriers Missed by Current Genetic Testing Guidelines;Neben;J. Mol. Diagn.,2019
5. Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants;Manickam;JAMA Netw. Open,2018
Cited by 33 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. Evaluating large language models on medical, lay-language, and self-reported descriptions of genetic conditions;The American Journal of Human Genetics;2024-09
2. Critical assessment of missense variant effect predictors on disease-relevant variant data;2024-06-08
3. Actionability and familial uptake following opportunistic genomic screening in a pediatric cancer cohort;European Journal of Human Genetics;2024-05-13
4. Diagnostic findings and yield of investigations for children with developmental regression;American Journal of Medical Genetics Part A;2024-03-27
5. Genetics Visit Uptake Among Individuals Receiving Clinically Actionable Genomic Screening Results;JAMA Network Open;2024-03-15
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