טוען...
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...
שמור ב:
| הוצא לאור ב: | Orphanet J Rare Dis |
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| Main Authors: | , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
BioMed Central
2020
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| נושאים: | |
| גישה מקוונת: | 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 |
| תגים: |
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