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Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience
Exome sequencing (ES) has become an important tool in pediatric genomic medicine, improving identification of disease-associated variation due to assay breadth. Depth is also afforded by ES, enabling detection of lower-frequency mosaic variation compared to Sanger sequencing in the studied tissue, t...
Autores principales: | Miller, Cecelia R., Lee, Kristy, Pfau, Ruthann B., Reshmi, Shalini C., Corsmeier, Donald J., Hashimoto, Sayaka, Dave-Wala, Ashita, Jayaraman, Vijayakumar, Koboldt, Daniel, Matthews, Theodora, Mouhlas, Danielle, Stein, Maggie, McKinney, Aimee, Grossman, Tom, Kelly, Benjamin J., White, Peter, Magrini, Vincent, Wilson, Richard K., Mardis, Elaine R., Cottrell, Catherine E. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cold Spring Harbor Laboratory Press
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7304353/ https://www.ncbi.nlm.nih.gov/pubmed/32371413 http://dx.doi.org/10.1101/mcs.a005231 |
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