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Parallel detection of single nucleotide variants and copy number variants with exome analysis: Validation in a cohort of 700 undiagnosed patients
Copy number variants (CNVs) are significant causes of rare and undiagnosed diseases. Parallel detection of single nucleotide variants (SNVs) and CNVs with exome analysis, if feasible, would shorten the diagnostic closure in a timely manner. We validated such “parallel” approach through a cohort stud...
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| Publicado no: | Am J Med Genet A |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley & Sons, Inc.
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7689761/ https://ncbi.nlm.nih.gov/pubmed/32779332 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61822 |
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