Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
Published 2017 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
Authors
Keywords
-
Journal
GENETICS IN MEDICINE
Volume 20, Issue 4, Pages 435-443
Publisher
Springer Nature
Online
2017-08-03
DOI
10.1038/gim.2017.119
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
- (2017) Jennifer E. Posey et al. NEW ENGLAND JOURNAL OF MEDICINE
- Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia
- (2016) Periklis Makrythanasis et al. AMERICAN JOURNAL OF HUMAN GENETICS
- MED23-associated refractory epilepsy successfully treated with the ketogenic diet
- (2016) Anath C. Lionel et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Clinical exome sequencing: results from 2819 samples reflecting 1000 families
- (2016) Daniel Trujillano et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Findings made in gene panel to whole genome sequencing: data, knowledge, ethics – and consequences?
- (2016) Eva C. Winkler et al. EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
- Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics
- (2016) Sarah S. Kalia et al. GENETICS IN MEDICINE
- Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers
- (2016) Aaron M. Wenger et al. GENETICS IN MEDICINE
- Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability
- (2016) Glen R. Monroe 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
- A specific mutation inTBL1XR1causes Pierpont syndrome
- (2016) Charlotte A Heinen et al. JOURNAL OF MEDICAL GENETICS
- Mutations specific to the Rac-GEF domain ofTRIOcause intellectual disability and microcephaly
- (2016) Reuben J Pengelly et al. JOURNAL OF MEDICAL GENETICS
- Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine
- (2016) Dimitri J Stavropoulos et al. npj Genomic Medicine
- The SickKids Genome Clinic: developing and evaluating a pediatric model for individualized genomic medicine
- (2015) S.C. Bowdin et al. CLINICAL GENETICS
- 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
- Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions
- (2015) Stefan H. Lelieveld et al. HUMAN MUTATION
- 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
- Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
- (2015) Jenny C Taylor et al. NATURE GENETICS
- ClinVar: public archive of interpretations of clinically relevant variants
- (2015) Melissa J. Landrum et al. NUCLEIC ACIDS RESEARCH
- Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing
- (2015) Daniele Merico et al. Nature Communications
- 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
- Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible and more sensitive for variant detection, than exome sequencing
- (2014) Mark B. Consugar et al. GENETICS IN MEDICINE
- MitImpact: an Exhaustive Collection of Pre-computed Pathogenicity Predictions of Human Mitochondrial Non-synonymous Variants
- (2014) Stefano Castellana et al. HUMAN MUTATION
- Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
- (2014) Hane Lee et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Genome sequencing identifies major causes of severe intellectual disability
- (2014) Christian Gilissen et al. NATURE
- Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders
- (2014) S. E. Soden et al. Science Translational Medicine
- Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation
- (2013) Bobby G. Ng et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms
- (2013) Come Raczy et al. BIOINFORMATICS
- PhenoTips: Patient Phenotyping Software for Clinical and Research Use
- (2013) Marta Girdea et al. HUMAN MUTATION
- Using ERDS to Infer Copy-Number Variants in High-Coverage Genomes
- (2012) Mingfu Zhu et al. AMERICAN JOURNAL OF HUMAN GENETICS
- CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing
- (2011) A. Abyzov et al. GENOME RESEARCH
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency
- (2008) Katharina Engel et al. MOLECULAR GENETICS AND METABOLISM
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started