Beyond medically actionable results: an analytical pipeline for decreasing the burden of returning all clinically significant secondary findings
出版年份 2020 全文链接
标题
Beyond medically actionable results: an analytical pipeline for decreasing the burden of returning all clinically significant secondary findings
作者
关键词
-
出版物
HUMAN GENETICS
Volume -, Issue -, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2020-09-06
DOI
10.1007/s00439-020-02220-9
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results
- (2019) Yvonne Bombard et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Patient assessment of chatbots for the scalable delivery of genetic counseling
- (2019) Tara Schmidlen et al. Journal of Genetic Counseling
- Health outcomes, utility and costs of returning incidental results from genomic sequencing in a Canadian cancer population: protocol for a mixed-methods randomised controlled trial
- (2019) Salma Shickh et al. BMJ Open
- The Genomics ADvISER: development and usability testing of a decision aid for the selection of incidental sequencing results
- (2018) Yvonne Bombard et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders
- (2018) Oliver James Dillon et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis
- (2018) Ankana Daga et al. KIDNEY INTERNATIONAL
- The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019
- (2018) Annalisa Buniello et al. NUCLEIC ACIDS RESEARCH
- COSMIC: the Catalogue Of Somatic Mutations In Cancer
- (2018) John G Tate et al. NUCLEIC ACIDS RESEARCH
- Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
- (2017) Anath C Lionel et al. GENETICS IN MEDICINE
- Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing
- (2017) Patricia Himes et al. GENETICS IN MEDICINE
- WHATIF: An open-source desktop application for extraction and management of the incidental findings from next-generation sequencing variant data
- (2016) Zhan Ye et al. COMPUTERS IN BIOLOGY AND MEDICINE
- 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
- (2016) Sarah S. Kalia et al. GENETICS IN MEDICINE
- A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation
- (2016) Jessica Ezzell Hunter et al. GENETICS IN MEDICINE
- DECIDE: a Decision Support Tool to Facilitate Parents’ Choices Regarding Genome-Wide Sequencing
- (2016) Patricia Birch et al. Journal of Genetic Counseling
- Societal preferences for the return of incidental findings from clinical genomic sequencing: a discrete-choice experiment
- (2015) Dean A. Regier et al. CANADIAN MEDICAL ASSOCIATION JOURNAL
- Molecular diagnostic experience of whole-exome sequencing in adult patients
- (2015) Jennifer E. Posey et al. GENETICS IN MEDICINE
- 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
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations
- (2015) Jordan Lerner-Ellis et al. JOURNAL OF MEDICAL GENETICS
- Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
- (2014) Yaping Yang et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- A systematic approach to assessing the clinical significance of genetic variants
- (2013) H Duzkale et al. CLINICAL GENETICS
- Clinical analysis of genome next-generation sequencing data using the Omicia platform
- (2013) Emily M Coonrod et al. EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
- Monogenic Parkinson's disease and parkinsonism: Clinical phenotypes and frequencies of known mutations
- (2013) Andreas Puschmann PARKINSONISM & RELATED DISORDERS
- Pharmacogenomics Knowledge for Personalized Medicine
- (2012) M Whirl-Carrillo et al. CLINICAL PHARMACOLOGY & THERAPEUTICS
- An informatics approach to analyzing the incidentalome
- (2012) Jonathan S. Berg et al. GENETICS IN MEDICINE
- CPIC: Clinical Pharmacogenetics Implementation Consortium of the Pharmacogenomics Research Network
- (2011) M V Relling et al. CLINICAL PHARMACOLOGY & THERAPEUTICS
- Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time
- (2011) Jonathan S Berg et al. GENETICS IN MEDICINE
- Autosomal dominant Parkinson's disease
- (2011) Christina Sundal et al. PARKINSONISM & RELATED DISORDERS
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now