Efficient Detection of Copy Number Mutations in PMS2 Exons with a Close Homolog

Detection of 3′ PMS2 copy-number mutations that cause Lynch syndrome is difficult because of highly homologous pseudogenes. To improve the accuracy and efficiency of clinical screening for these mutations, we developed a new method to analyze standard capture-based, next-generation sequencing data t...

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Detalhes bibliográficos
Publicado no:J Mol Diagn
Main Authors: Herman, Daniel S., Smith, Christina, Liu, Chang, Vaughn, Cecily P., Palaniappan, Selvi, Pritchard, Colin C., Shirts, Brian H.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Investigative Pathology 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6119818/
https://ncbi.nlm.nih.gov/pubmed/29792936
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jmoldx.2018.03.010
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