标题
Actionable Genes, Core Databases, and Locus-Specific Databases
作者
关键词
-
出版物
HUMAN MUTATION
Volume 37, Issue 12, Pages 1299-1307
出版商
Wiley
发表日期
2016-09-07
DOI
10.1002/humu.23112
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。- Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine
- (2016) Lora J.H. Bean et al. HUMAN MUTATION
- Human Variome Project Quality Assessment Criteria for Variation Databases
- (2016) Mauno Vihinen et al. HUMAN MUTATION
- LSDBs and How They Have Evolved
- (2016) Raymond Dalgleish HUMAN MUTATION
- UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution
- (2016) David Salgado et al. HUMAN MUTATION
- BRCA Share: A Collection of Clinical BRCA Gene Variants
- (2016) Christophe Béroud et al. HUMAN MUTATION
- How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era
- (2016) David Salgado et al. HUMAN MUTATION
- Guidelines for diagnostic next-generation sequencing
- (2015) Gert Matthijs et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Economic evidence on identifying clinically actionable findings with whole-genome sequencing: a scoping review
- (2015) Michael P. Douglas 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
- Actionable exomic incidental findings in 6503 participants: challenges of variant classification
- (2015) Laura M. Amendola et al. GENOME RESEARCH
- High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders
- (2015) Tarunashree Yavarna et al. HUMAN GENETICS
- Reporting Incidental Findings in Genomic Scale Clinical Sequencing—A Clinical Laboratory Perspective
- (2015) Madhuri Hegde et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- A global reference for human genetic variation
- (2015) Richard A. Gibbs et al. NATURE
- ClinVar: public archive of interpretations of clinically relevant variants
- (2015) Melissa J. Landrum et al. NUCLEIC ACIDS RESEARCH
- Secondary findings and carrier test frequencies in a large multiethnic sample
- (2015) Tomasz Gambin et al. Genome Medicine
- Identification of Medically Actionable Secondary Findings in the 1000 Genomes
- (2015) Emily Olfson et al. PLoS One
- Clinical Exome Performance for Reporting Secondary Genetic Findings
- (2014) J. Y. Park et al. CLINICAL CHEMISTRY
- ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing
- (2014) GENETICS IN MEDICINE
- Reporting genomic secondary findings: ACMG members weigh in
- (2014) Maren T. Scheuner et al. GENETICS IN MEDICINE
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- MutationTaster2: mutation prediction for the deep-sequencing age
- (2014) Jana Marie Schwarz et al. NATURE METHODS
- Do Researchers Have an Obligation to Actively Look for Genetic Incidental Findings?
- (2013) Catherine Gliwa et al. AMERICAN JOURNAL OF BIOETHICS
- Incidental Variants Are Critical for Genomics
- (2013) Leslie G. Biesecker AMERICAN JOURNAL OF HUMAN GENETICS
- Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes
- (2013) Michael O. Dorschner et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Secondary variants – in defense of a more fitting term in the incidental findings debate
- (2013) Gabrielle M Christenhusz et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Recommendations for returning genomic incidental findings? We need to talk!
- (2013) Wylie Burke et al. GENETICS IN MEDICINE
- Managing incidental genomic findings: legal obligations of clinicians
- (2013) Ellen Wright Clayton et al. GENETICS IN MEDICINE
- Incidental findings in clinical genomics: a clarification
- (2013) GENETICS IN MEDICINE
- ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
- (2013) Robert C. Green et al. GENETICS IN MEDICINE
- The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
- (2013) Peter D. Stenson et al. HUMAN GENETICS
- Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing
- (2012) Yali Xue et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes
- (2012) Jennifer J. Johnston et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
- (2012) Wenqing Fu et al. NATURE
- SIFT web server: predicting effects of amino acid substitutions on proteins
- (2012) Ngak-Leng Sim et al. NUCLEIC ACIDS RESEARCH
- Predicting the Functional Effect of Amino Acid Substitutions and Indels
- (2012) Yongwook Choi et al. PLoS One
- Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes
- (2012) J. A. Tennessen et al. SCIENCE
- Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel
- (2011) Abel González-Pérez et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Predicting the functional impact of protein mutations: application to cancer genomics
- (2011) Boris Reva et al. NUCLEIC ACIDS RESEARCH
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene
- (2009) Chantal Stheneur et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Human Splicing Finder: an online bioinformatics tool to predict splicing signals
- (2009) François-Olivier Desmet et al. NUCLEIC ACIDS RESEARCH
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now