Journal article
Predicting the diagnosis of autism spectrum disorder using gene pathway analysis
E Skafidas, R Testa, D Zantomio, G Chana, IP Everall, C Pantelis
Molecular Psychiatry | NATURE PUBLISHING GROUP | Published : 2014
DOI: 10.1038/mp.2012.126
Abstract
Autism spectrum disorder (ASD) depends on a clinical interview with no biomarkers to aid diagnosis. The current investigation interrogated single-nucleotide polymorphisms (SNPs) of individuals with ASD from the Autism Genetic Resource Exchange (AGRE) database. SNPs were mapped to Kyoto Encyclopedia of Genes and Genomes (KEGG)-derived pathways to identify affected cellular processes and develop a diagnostic test. This test was then applied to two independent samples from the Simons Foundation Autism Research Initiative (SFARI) and Wellcome Trust 1958 normal birth cohort (WTBC) for validation. Using AGRE SNP data from a Central European (CEU) cohort, we created a genetic diagnostic classifier ..
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Grants
Awarded by National Health and Medical Research Council
Funding Acknowledgements
Professor Christos Pantelis was supported by a NHMRC Senior Principal Research Fellowship (ID 628386). AGRE: We gratefully acknowledge the resources provided by the Autism Genetic Resource Exchange (AGRE) Consortium and the participating AGRE families. The Autism Genetic Resource Exchange is a program of Autism Speaks and is supported, in part, by grant 1U24MH081810 from the National Institute of Mental Health to Clara M Lajonchere (PI). SFARI: We are grateful to all of the families at the participating Simons Simplex Collection (SSC) sites, as well as the principal investigators (A Beaudet, R Bernier, J Constantino, E Cook, E Fombonne, D Geschwind, R Goin-Kochel, E Hanson, D Grice, A Klin, D Ledbetter, C Lord, C Martin, D Martin, R Maxim, J Miles, O Ousley, K Pelphrey, B Peterson, J Piggot, C Saulnier, M State, W Stone, J Sutcliffe, C Walsh, Z Warren, E Wijsman). WTBC: We acknowledge use of the British 1958 Birth Cohort DNA collection, funded by the Medical Research Council grant G1234567 and the Wellcome Trust grant 012345.