A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data
Published 2017 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data
Authors
Keywords
-
Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 25, Issue 11, Pages 1268-1272
Publisher
Springer Nature
Online
2017-08-23
DOI
10.1038/ejhg.2017.123
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study
- (2017) Elizabeth Ormondroyd et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Recommendations for the integration of genomics into clinical practice
- (2016) Sarah Bowdin et al. GENETICS IN MEDICINE
- A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
- (2016) Zornitza Stark et al. GENETICS IN MEDICINE
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency
- (2015) William P. Bone et al. GENETICS IN MEDICINE
- Cpipe: a shared variant detection pipeline designed for diagnostic settings
- (2015) Simon P. Sadedin et al. Genome Medicine
- Phenotype-driven strategies for exome prioritization of human Mendelian disease genes
- (2015) Damian Smedley et al. Genome Medicine
- Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings
- (2015) Laurel K Willig et al. Lancet Respiratory Medicine
- Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families
- (2014) Marc V. Singleton et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions
- (2014) Kelly D. Farwell et al. GENETICS IN MEDICINE
- Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
- (2014) Hane Lee et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- Phen-Gen: combining phenotype and genotype to analyze rare disorders
- (2014) Asif Javed et al. NATURE METHODS
- Improved exome prioritization of disease genes through cross-species phenotype comparison
- (2013) P. N. Robinson et al. GENOME RESEARCH
- PhenoTips: Patient Phenotyping Software for Clinical and Research Use
- (2013) Marta Girdea et al. HUMAN MUTATION
- eXtasy: variant prioritization by genomic data fusion
- (2013) Alejandro Sifrim et al. NATURE METHODS
- 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
- LOVD v.2.0: the next generation in gene variant databases
- (2011) Ivo F. A. C. Fokkema et al. HUMAN MUTATION
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies
- (2009) Sebastian Köhler et al. AMERICAN JOURNAL OF HUMAN GENETICS
- ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
- (2008) C Sue Richards et al. GENETICS IN MEDICINE
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreAdd 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