Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases
Author:
Funder
Government of Canada
Ontario Genomics Institute
Genome Canada
Manchester Biomedical Research Centre
Publisher
Elsevier BV
Reference39 articles.
1. The burden of rare diseases;Ferreira;Am J Med Genet A,2019
2. OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants;Colin;Front Cell Dev Biol,2022
3. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database;Nguengang Wakap;Eur J Hum Genet,2020
4. Meta-analysis of the diagnostic and clinical utility of exome and genome sequencing in pediatric and adult patients with rare diseases across diverse populations;Chung;Genet Med,2023
5. Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases;Clark;npj Genom Med,2018
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