A scoping review and proposed workflow for multi-omic rare disease research

A scoping review and proposed workflow for multi-omic rare disease research

Abstract Background Patients with rare diseases face unique challenges in obtaining a diagnosis, appropriate medical care and access to support services. Whole genome and exome sequencing have increased identification of causal variants compared to single gene testing alone, with diagnostic rates of...

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Bibliographic Details
Main Authors: Katie Kerr, Helen McAneney, Laura J. Smyth, Caitlin Bailie, Shane McKee, Amy Jayne McKnight
Format: Article
Language:English
Published: BMC 2020-04-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Epigenomics
Exomics
Genomics
Methylomics
Multi-omics
Rare disease
Online Access:http://link.springer.com/article/10.1186/s13023-020-01376-x

Internet

http://link.springer.com/article/10.1186/s13023-020-01376-x

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