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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發表在:Mol Autism
Main Authors: 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.
格式: Artigo
語言:Inglês
出版: BioMed Central 2015
主題:
Research
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4504419/
https://ncbi.nlm.nih.gov/pubmed/26185613
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13229-015-0034-z
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