Deciphering the non-coding genome in Autism Spectrum Disorders (ASD): in silico characterization of common, splicing and regulatory variants

Through a combination of bioinformatics methods and diverse genetic data collections, we have uncovered insights into a broad spectrum of genetic variation. In summary, the findings from this in silico characterization of common, splicing, and regulatory variants include the identification of specif...

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Detalles Bibliográficos
Autor: Domínguez Alonso, Sara
Tipo de recurso: tesis doctoral
Fecha de publicación:2024
País:España
Institución:Universidad de Santiago de Compostela (USC)
Repositorio:Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela
Idioma:inglés
OAI Identifier:oai:minerva.usc.gal:10347/34456
Acceso en línea:http://hdl.handle.net/10347/34456
Access Level:acceso abierto
Palabra clave:241007 Genética humana
Descripción
Sumario:Through a combination of bioinformatics methods and diverse genetic data collections, we have uncovered insights into a broad spectrum of genetic variation. In summary, the findings from this in silico characterization of common, splicing, and regulatory variants include the identification of specific genes most likely to be affected by non-coding common variation, a deeper understanding of how splicing variation may mediate disease risk, and the establishment of a crucial role for chromatin conformation in ASD.

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