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

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 approxi...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Orphanet J Rare Dis
मुख्य लेखकों: Kerr, Katie, McAneney, Helen, Smyth, Laura J., Bailie, Caitlin, McKee, Shane, McKnight, Amy Jayne
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: BioMed Central 2020
विषय:
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC7189570/
https://ncbi.nlm.nih.gov/pubmed/32345347
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01376-x
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