Clinical detection of deletion structural variants in whole-genome sequences

Optimal management of acutely ill infants with monogenetic diseases requires rapid identification of causative haplotypes. Whole-genome sequencing (WGS) has been shown to identify pathogenic nucleotide variants in such infants. Deletion structural variants (DSVs, >50 nt) are implicated in many ge...

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Detalles Bibliográficos
Autores principales: Noll, Aaron C, Miller, Neil A, Smith, Laurie D, Yoo, Byunggil, Fiedler, Stephanie, Cooley, Linda D, Willig, Laurel K, Petrikin, Josh E, Cakici, Julie, Lesko, John, Newton, Angela, Detherage, Kali, Thiffault, Isabelle, Saunders, Carol J, Farrow, Emily G, Kingsmore, Stephen F
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5685307/
https://www.ncbi.nlm.nih.gov/pubmed/29263817
http://dx.doi.org/10.1038/npjgenmed.2016.26

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5685307/
https://www.ncbi.nlm.nih.gov/pubmed/29263817
http://dx.doi.org/10.1038/npjgenmed.2016.26

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