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

Resumo

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.