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AB003. Prevalence of copy number and structural variants across Mendelian disorders
BACKGROUND: Exonic copy number variants (CNVs) contribute to disease, but their prevalence is poorly understood. METHODS: We applied a next-generation sequencing method to simultaneously detect single-nucleotide variants and small indels (SNVs) as well as intragenic CNVs in a large population underg...
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| Publicado en: | Ann Transl Med |
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| Autores principales: | , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
AME Publishing Company
2017
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5641762/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2017.s003 |
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