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- Base Legal para a Implementação da Iniciativa 1 Milhão de Genomas (1+MG) WorkshopPublication . Vicente, Astrid MouraThe 1+ Million Genomes initiative has the potential to improve disease prevention, allow for more personalised treatments and support groundbreaking research. The '1+ Million Genomes' (1+MG) initiative aims to enable secure access to genomics and the corresponding clinical data across Europe for better research, personalised healthcare and health policy making. Since the Digital Day 2018, 22 EU countries, the UK and Norway signed Member States’ declaration on stepping up efforts towards creating a European data infrastructure for genomic data and implementing common national rules enabling federated data access. The initiative forms part of the EU’s agenda for the Digital Transformation of Health and Care and is aligned with the goals of the European Health Data Space.
- Genetic Similarity Between nAutism Spectrum Disorder and Comorbid Brain DisordersPublication . Vilela, Joana; Martiniano, Hugo; Marques, Ana Rita; Santos, João Xavier; Rasga, Célia; Oliveira, Guiomar; Vicente, Astrid MouraBackground: A range of brain disorders are comorbid with Autism Spectrum Disorder (ASD), such as Epilepsy, Intellectual disability or Anxiety. Previous evidence suggested a shared genetic influence between ASD and several brain disorders. In this study, we sought to further substantiate the genetic similarity between ASD and a set of comorbid brain disorders. Methods: We constructed a network of 29 brain disorders based on their genetic similarity, estimated from the Jaccard coefficient between disease pairs. The Leiden algorithm was used to identify network disease communities. In 3,881 ASD cases from a whole-genome sequencing dataset, we further searched for de novo loss-of-function (LoF) Single Nucleotide Variants (SNVs) in genes shared by the disease communities. Results: Through network analysis we identified three disease communities, including a heterogeneous community that is genetically more similar to ASD, and that also includes Epilepsy, Bipolar Disorder, Attention-Deficit/Hyperactivity Disorder combined type, and some disorders in the Schizophrenia Spectrum. Several of the genes shared by diseases communities are strong ASD candidate genes, such as SHANK3, SCN2A, ASH1L or CHD2, and harbour the highest number of rare de novo LoF SNVs in ASD patients. Conclusion: This study provided further evidence for a shared genetic architecture between ASD and several other brain disorders, including some frequent comorbidities of ASD. It also showed that ASD patients have rare de novo LoF variants in genes associated with frequent comorbid disorders, and identified genes that overlap between brain disease communities.