Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants

BACKGROUND: Autism spectrum disorder (ASD) is highly heritable, yet genome-wide association studies (GWAS), copy number variation screens, and candidate gene association studies have found no single factor accounting for a large percentage of genetic risk. ASD trio exome sequencing studies have reve...

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Detalles Bibliográficos
Autores principales: Griswold, Anthony J., Dueker, Nicole D., Van Booven, Derek, Rantus, Joseph A., Jaworski, James M., Slifer, Susan H., Schmidt, Michael A., Hulme, William, Konidari, Ioanna, Whitehead, Patrice L., Cuccaro, Michael L., Martin, Eden R., Haines, Jonathan L., Gilbert, John R., Hussman, John P., Pericak-Vance, Margaret A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4504419/
https://www.ncbi.nlm.nih.gov/pubmed/26185613
http://dx.doi.org/10.1186/s13229-015-0034-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4504419/
https://www.ncbi.nlm.nih.gov/pubmed/26185613
http://dx.doi.org/10.1186/s13229-015-0034-z

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