Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders

Exome and genome sequencing have proven to be effective tools for the diagnosis of neurodevelopmental disorders (NDDs), but large fractions of NDDs cannot be attributed to currently detectable genetic variation. This is likely, at least in part, a result of the fact that many genetic variants are di...

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Detalles Bibliográficos
Autores principales: Hiatt, Susan M., Lawlor, James M.J., Handley, Lori H., Ramaker, Ryne C., Rogers, Brianne B., Partridge, E. Christopher, Boston, Lori Beth, Williams, Melissa, Plott, Christopher B., Jenkins, Jerry, Gray, David E., Holt, James M., Bowling, Kevin M., Bebin, E. Martina, Grimwood, Jane, Schmutz, Jeremy, Cooper, Gregory M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8087252/
https://www.ncbi.nlm.nih.gov/pubmed/33937879
http://dx.doi.org/10.1016/j.xhgg.2021.100023

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8087252/
https://www.ncbi.nlm.nih.gov/pubmed/33937879
http://dx.doi.org/10.1016/j.xhgg.2021.100023

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