Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease
Published 2022 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease
Authors
Keywords
-
Journal
HUMAN MUTATION
Volume -, Issue -, Pages -
Publisher
Wiley
Online
2022-04-08
DOI
10.1002/humu.24380
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism
- (2021) Maya Chopra et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Interpretable prioritization of splice variants in diagnostic next-generation sequencing
- (2021) Daniel Danis et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
- (2021) Leslie Matalonga et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis
- (2021) Véronique Geoffroy et al. NUCLEIC ACIDS RESEARCH
- 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report
- (2021) et al. NEW ENGLAND JOURNAL OF MEDICINE
- A structural variation reference for medical and population genetics
- (2020) Ryan L. Collins et al. NATURE
- The mutational constraint spectrum quantified from variation in 141,456 humans
- (2020) Konrad J. Karczewski et al. NATURE
- AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature
- (2020) Johannes Birgmeier et al. Science Translational Medicine
- Interpretable Clinical Genomics with a Likelihood Ratio Paradigm
- (2020) Peter N. Robinson et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The Human Phenotype Ontology in 2021
- (2020) Sebastian Köhler et al. NUCLEIC ACIDS RESEARCH
- Predicting Splicing from Primary Sequence with Deep Learning
- (2019) Kishore Jaganathan et al. CELL
- Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach
- (2019) Chao Wu et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Insights into genetics, human biology and disease gleaned from family based genomic studies
- (2019) Jennifer E. Posey et al. GENETICS IN MEDICINE
- Xrare: a machine learning method jointly modeling phenotypes and genetic evidence for rare disease diagnosis
- (2019) Qigang Li et al. GENETICS IN MEDICINE
- DeepPVP: phenotype-based prioritization of causative variants using deep learning
- (2019) Imane Boudellioua et al. BMC BIOINFORMATICS
- PhenoPro: a novel toolkit for assisting in the diagnosis of Mendelian disease
- (2019) Zixiu Li et al. BIOINFORMATICS
- The burden of rare diseases
- (2019) Carlos R. Ferreira AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- MutationDistiller: user-driven identification of pathogenic DNA variants
- (2019) Daniela Hombach et al. NUCLEIC ACIDS RESEARCH
- Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder
- (2019) Rachel Thompson et al. HUMAN MUTATION
- Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis
- (2019) Patrick Deelen et al. Nature Communications
- Fetal phenotypes emerge as genetic technologies become robust
- (2019) Kathryn J. Gray et al. PRENATAL DIAGNOSIS
- Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)
- (2019) Erin Rooney Riggs et al. GENETICS IN MEDICINE
- How many rare diseases are there?
- (2019) Melissa Haendel et al. NATURE REVIEWS DRUG DISCOVERY
- Personalised analytics for rare disease diagnostics
- (2019) Denise Anderson et al. Nature Communications
- GenIO: a phenotype-genotype analysis web server for clinical genomics of rare diseases
- (2018) Daniel Koile et al. BMC BIOINFORMATICS
- The 100 000 Genomes Project: bringing whole genome sequencing to the NHS
- (2018) Clare Turnbull et al. BMJ-British Medical Journal
- The 100 000 Genomes Project: bringing whole genome sequencing to the NHS
- (2018) Clare Turnbull et al. BMJ-British Medical Journal
- Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases
- (2018) Michelle M. Clark et al. npj Genomic Medicine
- Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease
- (2018) Kimberly Splinter et al. NEW ENGLAND JOURNAL OF MEDICINE
- OMIM.org: leveraging knowledge across phenotype–gene relationships
- (2018) Joanna S Amberger et al. NUCLEIC ACIDS RESEARCH
- ClinVar: improving access to variant interpretations and supporting evidence
- (2017) Melissa J Landrum et al. NUCLEIC ACIDS RESEARCH
- Clinical Practice Guidelines for Rare Diseases: The Orphanet Database
- (2017) Sonia Pavan et al. PLoS One
- A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease
- (2016) Damian Smedley et al. AMERICAN JOURNAL OF HUMAN GENETICS
- REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants
- (2016) Nilah M. Ioannidis et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics
- (2016) Regis A. James et al. Genome Medicine
- Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios
- (2015) Xiaolin Zhu 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
- Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder
- (2015) Kristiina Tammimies et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR
- (2015) Hui Yang et al. Nature Protocols
- Next-generation diagnostics and disease-gene discovery with the Exomiser
- (2015) Damian Smedley et al. Nature Protocols
- Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study
- (2014) D.A. Dyment et al. CLINICAL GENETICS
- Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
- (2014) Yaping Yang 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
- A web-based interactive framework to assist in the prioritization of disease candidate genes in whole-exome sequencing studies
- (2014) Alejandro Alemán et al. NUCLEIC ACIDS RESEARCH
- Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome
- (2014) T. Zemojtel et al. Science Translational Medicine
- eXtasy: variant prioritization by genomic data fusion
- (2013) Alejandro Sifrim et al. NATURE METHODS
- Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
- (2013) Yaping Yang et al. NEW ENGLAND JOURNAL OF MEDICINE
- Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
- (2012) Anita Rauch et al. LANCET
- Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
- (2012) Joep de Ligt et al. NEW ENGLAND JOURNAL OF MEDICINE
- The variant call format and VCFtools
- (2011) P. Danecek et al. BIOINFORMATICS
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- MutationTaster evaluates disease-causing potential of sequence alterations
- (2010) Jana Marie Schwarz et al. NATURE METHODS
- Exome sequencing identifies the cause of a mendelian disorder
- (2009) Sarah B Ng et al. NATURE GENETICS
- Two silent substitutions in the PDHA1 gene cause exon 5 skipping by disruption of a putative exonic splicing enhancer
- (2007) A. Boichard et al. MOLECULAR GENETICS AND METABOLISM
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 NowCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now