Aina Jené

Analyzing sex imbalance in EGA and dbGaP biological databases: Recommendations for better practices

Victoria Ruiz‐Serra, Nataly Buslón, Olivier Philippe, Diego Saby et autres

Precision medicine aims at tailoring treatments to individual patient's characteristics. In this regard, recognizing the significance of sex and gender becomes indispensable for meeting the distinct healthcare needs of diverse populations. To this end, continuing a trend of improving data quality observed …

es, be, gb (code pays fourni par la source)

[Federated] EGA: Providing global discovery and access for sensitive human data

Aina Jené, Mallory Freeberg

With increasingly strict regulations for managing sensitive human omics and healthcare-derived data, solutions are required to ensure research and clinical data can be accessed across national borders. Safely sharing sensitive data is vital for data reuse to support biomedical research and personalised …

es, gb, ru (code pays fourni par la source)

Demonstrating federated EGA services for sensitive data discovery & access

Amy J. Curwin, Teresa D’Altri, Mallory Freeberg, Aina Jené et autres

Over the last 10 years, most individual-level human omics data have been generated in the context of research consortia and shared via global repositories such as the European Genome-phenome Archive (EGA). Many countries now have emerging personalised medicine programmes which are generating …

gb (code pays fourni par la source)

Addressing sex bias in biological databases worldwide

Victoria Ruiz‐Serra, Nataly Buslón, Olivier Philippe, Diego Saby et autres

Precision medicine aims at tailoring treatments to individual patient needs. In this context, artificial intelligence (AI)-based technologies are viewed as revolutionary since they have the capacity to identify key features that link genomic and phenotypic traits at the individual level. AI techniques …

es (code pays fourni par la source)

A quality control portal for sequencing data deposited at the European genome–phenome archive

Dietmar Fernández‐Orth, Manuel Rueda, Babita Singh, Mauricio Moldes et autres

Since its launch in 2008, the European Genome-Phenome Archive (EGA) has been leading the archiving and distribution of human identifiable genomic data. In this regard, one of the community concerns is the potential usability of the stored data, as of now, data …

es (code pays fourni par la source)

GA4GH: International policies and standards for data sharing across genomic research and healthcare

Heidi L. Rehm, Angela Page, Lindsay Smith, Jeremy Adams et autres

The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of clinical and genomic data through both harmonized data aggregation and federated approaches. The decreasing cost of genomic sequencing (along with other genome-wide molecular …

us, ca, ch, gb, es, au, qa, hk, cz, at, tw, sg, jp (code pays fourni par la source)

The Data Use Ontology to streamline responsible access to human biomedical datasets

Jonathan Lawson, Moran N. Cabili, Giselle Kerry, Tiffany Boughtwood et autres

Human biomedical datasets that are critical for research and clinical studies to benefit human health also often contain sensitive or potentially identifying information of individual participants. Thus, care must be taken when they are processed and made available to comply with ethical …

us, gb, au, lu, ca, jp, cz, es, Afrique du Sud, fi, fr, de, nl (code pays fourni par la source)

The European Genome-phenome Archive in 2021

Mallory Freeberg, Lauren A. Fromont, Anna Foix, Jorge Izquierdo Ciges et autres

The European Genome-phenome Archive (EGA - https://ega-archive.org/) is a resource for long term secure archiving of all types of potentially identifiable genetic, phenotypic, and clinical data resulting from biomedical research projects. Its mission is to foster hosted data reuse, enable reproducibility, and …

gb, es (code pays fourni par la source)

Extreme downregulation of chromosome Y and Alzheimer's disease in men

Alejandro Cáceres, Aina Jené, Tõnu Esko, Luis A. Pérez‐Jurado et autres

es, ee, au (code pays fourni par la source)

Extreme Downregulation of Chromosome Y and Cancer Risk in Men

Alejandro Cáceres, Aina Jené, Tõnu Esko, Luis A. Pérez‐Jurado et autres

BACKGROUND: Understanding the biological differences between sexes in cancer is essential for personalized treatment and prevention. We hypothesized that the extreme downregulation of chromosome Y gene expression (EDY) is a signature of cancer risk in men and the functional mediator of the …

es, ee, au (code pays fourni par la source)