The article “DGH-GO: dissecting the genetic heterogeneity of complex diseases using gene ontology”, authored by Muhammad Asif (former LASIGE member) has been published in the BMC Bioinformatics journal, a top-ranked journal (h5-index 75; Scimago Q1). The paper’s co-authors include the LASIGE’s integrated researcher Francisco M. Couto and André Lamurias (also a former LASIGE member).

The work resulted from a collaboration between LASIGE and the Instituto Nacional de Saúde Doutor Ricardo Jorge in studying complex diseases, such as neurodevelopmental disorders (NDDs), more specifically to identify genes disrupted by rare genetic variants in Autism Spectrum Disorder (ASD) patients. The article presents an open-source pipeline, called Dissecting the Genetic Heterogeneity using GO (DGH-GO) with a graphical user interface. DGH-GO hypothesized that putative disease-causing genes tend to converge on similar biological processes and pathways, indicating the functional relationship between them. Also, functionally similar genes may lead to similar or identical phenotype(s). The DGH-GO allows biologists to analyze a list of genes emerged from their large-scale genomic studies or created from known disease databases to study the shared biological mechanisms among different diseases or conditions. A case study of ASD-associated genes targeting putative disease-causing variants confirmed the multi-etiological nature of ASD and showed that identifying clusters of functionally similar genes could hint about the existence of distinct biological convergence patterns leading to specific biological mechanisms and phenotypes.

The paper is available here.