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A simple method to estimate the in-house limit of detection for genetic mutations with low allele frequencies in whole-exome sequencing analysis by next-generation sequencing

BACKGROUND: Next-generation sequencing (NGS) has profoundly changed the approach to genetic/genomic research. Particularly, the clinical utility of NGS in detecting mutations associated with disease risk has contributed to the development of effective therapeutic strategies. Recently, comprehensive...

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Detalles Bibliográficos
Autores principales: Miura, Takumi, Yasuda, Satoshi, Sato, Yoji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7893872/
https://www.ncbi.nlm.nih.gov/pubmed/33602132
http://dx.doi.org/10.1186/s12863-020-00956-x