Systematic use of phenotype evidence in clinical genetic testing reduces the frequency of variants of uncertain significance
出版年份 2022 全文链接
标题
Systematic use of phenotype evidence in clinical genetic testing reduces the frequency of variants of uncertain significance
作者
关键词
-
出版物
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume -, Issue -, Pages -
出版商
Wiley
发表日期
2022-05-16
DOI
10.1002/ajmg.a.62779
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 Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources
- (2022) Marina T. DiStefano et al. GENETICS IN MEDICINE
- An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data
- (2020) Valentina Cipriani et al. Genes
- Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder
- (2019) Rachel Thompson et al. HUMAN MUTATION
- Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes
- (2018) Jung Hoon Son et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline
- (2018) Adam J. Shapiro et al. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
- ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation
- (2018) Bruce D Gelb et al. GENETICS IN MEDICINE
- Prevalence and properties of intragenic copy-number variation in Mendelian disease genes
- (2018) Rebecca Truty et al. GENETICS IN MEDICINE
- Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel
- (2018) Melissa A Kelly et al. GENETICS IN MEDICINE
- ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation
- (2018) Edgar A. Rivera-Muñoz et al. HUMAN MUTATION
- Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel
- (2018) Jessica L. Mester et al. HUMAN MUTATION
- Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene
- (2018) Diane B. Zastrow et al. HUMAN MUTATION
- Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants
- (2018) Kristy Lee et al. HUMAN MUTATION
- Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria
- (2017) Keith Nykamp et al. GENETICS IN MEDICINE
- Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
- (2016) Laura M. Amendola et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Interpreting sequence variants in a clinical context
- (2015) Stephen Cederbaum 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
- The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery
- (2015) Anthony A. Philippakis et al. HUMAN MUTATION
- A Systematic Comparison of Traditional and Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Genes in More Than 1000 Patients
- (2015) Stephen E. Lincoln et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia
- (2015) Christian R. Marshall et al. G3-Genes Genomes Genetics
- Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology
- (2014) Aaron J Masino et al. BMC BIOINFORMATICS
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