A scoping review and proposed workflow for multi-omic rare disease research
Abstract
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 approximately 50% for inherited diseases, however integrated multi-omic analysis may further increase diagnostic yield. Additionally, multi-omic analysis can aid the...
Paper Details
Title
A scoping review and proposed workflow for multi-omic rare disease research
Published Date
Apr 28, 2020
Volume
15
Issue
1
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