A scoping review and proposed workflow for multi-omic rare disease research
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 v...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Katie Kerr, Helen McAneney, Laura J. Smyth, Caitlin Bailie, Shane McKee and Amy Jayne McKnight Tags: Review Source Type: research
More News: Internal Medicine | Rare Diseases