Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP
Published 2019 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP
Authors
Keywords
-
Journal
Nature Communications
Volume 10, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2019-05-30
DOI
10.1038/s41467-019-10016-3
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders
- (2018) Caroline F Wright et al. GENETICS IN MEDICINE
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Patterns of genic intolerance of rare copy number variation in 59,898 human exomes
- (2016) Douglas M Ruderfer et al. NATURE GENETICS
- Unified representation of genetic variants
- (2015) Adrian Tan et al. BIOINFORMATICS
- Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
- (2015) Caroline F Wright et al. LANCET
- A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies
- (2015) Sumit Parikh et al. MOLECULAR GENETICS AND METABOLISM
- A global reference for human genetic variation
- (2015) Richard A. Gibbs et al. NATURE
- Dystrophinopathies
- (2015) John Brandsema et al. SEMINARS IN NEUROLOGY
- UK Biobank: An Open Access Resource for Identifying the Causes of a Wide Range of Complex Diseases of Middle and Old Age
- (2015) Cathie Sudlow et al. PLOS MEDICINE
- The Precision-Recall Plot Is More Informative than the ROC Plot When Evaluating Binary Classifiers on Imbalanced Datasets
- (2015) Takaya Saito et al. PLoS One
- Large-scale discovery of novel genetic causes of developmental disorders
- (2014) T. W. Fitzgerald et al. NATURE
- Genome sequencing identifies major causes of severe intellectual disability
- (2014) Christian Gilissen et al. NATURE
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- A survey of tools for variant analysis of next-generation genome sequencing data
- (2013) S. Pabinger et al. BRIEFINGS IN BIOINFORMATICS
- The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
- (2013) Sebastian Köhler et al. NUCLEIC ACIDS RESEARCH
- Cohort Profile: Generation Scotland: Scottish Family Health Study (GS:SFHS). The study, its participants and their potential for genetic research on health and illness
- (2012) Blair H Smith et al. INTERNATIONAL JOURNAL OF EPIDEMIOLOGY
- The Deciphering Developmental Disorders (DDD) study
- (2011) HELEN V FIRTH et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy
- (2010) James R. Lupski et al. NEW ENGLAND JOURNAL OF MEDICINE
- Exome sequencing identifies the cause of a mendelian disorder
- (2009) Sarah B Ng et al. NATURE GENETICS
- Exome sequencing makes medical genomics a reality
- (2009) Leslie G Biesecker NATURE GENETICS
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
- (2009) Murim Choi et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Add 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 NowBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started