De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder

Whole-exome sequencing (WES) studies have demonstrated the contribution of de novo loss-of-function single nucleotide variants to autism spectrum disorders (ASD). However, challenges in the reliable detection of de novo insertions and deletions (indels) have limited inclusion of these variants in pr...

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Autori principali: Dong, Shan, Walker, Michael F., Carriero, Nicholas J., DiCola, Michael, Willsey, A. Jeremy, Ye, Adam Y., Waqar, Zainulabedin, Gonzalez, Luis E., Overton, John D., Frahm, Stephanie, Keaney, John F., Teran, Nicole A., Dea, Jeanselle, Mandell, Jeffrey D., Bal, Vanessa Hus, Sullivan, Catherine A., DiLullo, Nicholas M., Khalil, Rehab O., Gockley, Jake, Yuksel, Zafer, Sertel, Sinem M., Ercan-Sencicek, A. Gulhan, Gupta, Abha R., Mane, Shrikant M., Sheldon, Michael, Brooks, Andrew I., Roeder, Kathryn, Devlin, Bernie, State, Matthew W., Wei, Liping, Sanders, Stephan J.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2014
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4194132/
https://ncbi.nlm.nih.gov/pubmed/25284784
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.celrep.2014.08.068
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