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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
Autores principales: Aradhya, Swaroop, Truty, Rebecca
Formato: Artigo
Lenguaje:Inglês
Publicado: AME Publishing Company 2017
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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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