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...

Descripción completa

Detalles Bibliográficos
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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2020
Materias:
Research Articles
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

Internet

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

Ejemplares similares