Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease–gene association

The application of next-generation sequencing (NGS) to clinical practice is still hampered by the ability to interpret the clinical relevance of novel variants and the difficulty of evaluating their effect in specific tissues. Here, we applied integrated genomic approaches for interrogating blood sa...

Descripción completa

Detalles Bibliográficos
Autores principales: Cesana, M., Vaccaro, L., Larsen, M. J., Kibæk, M., Micale, L., Riccardo, S., Annunziata, P., Colantuono, C., Di Filippo, L., De Brasi, D., Castori, M., Fagerberg, C., Acquaviva, F., Cacchiarelli, D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9950172/
https://www.ncbi.nlm.nih.gov/pubmed/36469137
http://dx.doi.org/10.1007/s00439-022-02497-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9950172/
https://www.ncbi.nlm.nih.gov/pubmed/36469137
http://dx.doi.org/10.1007/s00439-022-02497-y

Ejemplares similares