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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...
में बचाया:
| में प्रकाशित: | Orphanet J Rare Dis |
|---|---|
| मुख्य लेखकों: | , , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
BioMed Central
2020
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| 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 |
| टैग : |
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