Alexander Senf

Enhancing data security in GA4GH task execution services with confidential computing

Pavel Nikonorov, Ruslan Vakhitov, Alexander Senf, Boris Guennewig et autres

In conventional computing systems, the sharing of data with another party implies its disclosure and the inability to control its further usage. Confidential Computing is a CPU-based technology that addresses these issues by enabling hardware-enforced trust establishment between remote computing devices and …

Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

Adam Jackson, Sheng‐Jia Lin, Elizabeth A. Jones, Kate Chandler et autres

TSPEAR variants cause autosomal recessive ectodermal dysplasia (ARED) 14. The function of TSPEAR is unknown. The clinical features, the mutation spectrum, and the underlying mechanisms of ARED14 are poorly understood. Combining data from new and previously published individuals established that ARED14 is …

gb, us (code pays fourni par la source)

Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases

Alberto Corvò, Leslie Matalonga, Dylan Spalding, Alexander Senf et autres

The Solve-RD project objectives include solving undiagnosed rare diseases (RD) through collaborative research on shared genome-phenome datasets. The RD-Connect Genome-Phenome Analysis Platform (GPAP), for data collation and analysis, and the European Genome-Phenome Archive (EGA), for file storage, are two key components of …

es, gb, fi (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)

Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Rebecca Schüle, Dagmar Timmann, Corrie E. Erasmus, Jennifer Reichbauer et autres

de, nl, be, hu, fr, gb, es, si, us (code pays fourni par la source)

Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Carles Hernandéz-Ferrer, Davide Piscia, Isabel Cuesta, Yannis Duffourd et autres

es, fr, us, nl, fi, de, gb, pt, it, se, cz, be, ca (code pays fourni par la source)

Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Birte Zurek, Kornelia Ellwanger, Lisenka E.L.M. Vissers, Rebecca Schüle et autres

de, nl, gb, es, fr, ca (code pays fourni par la source)

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Birte Zurek, Kornelia Ellwanger, Lisenka E.L.M. Vissers, Rebecca Schüle et autres

For the first time in Europe hundreds of rare disease (RD) experts team up to actively share and jointly analyse existing patient's data. Solve-RD is a Horizon 2020-supported EU flagship project bringing together >300 clinicians, scientists, and patient representatives of 51 sites …

de, nl, gb, es, fr, ca (code pays fourni par la source)

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Carles Hernandéz-Ferrer, Davide Piscia, Enzo Cohen, Isabel Cuesta et autres

Reanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield of patients with rare diseases. However, the cost and efforts required for reanalysis prevent its routine implementation in research and clinical environments. The Solve-RD project aims to reveal the molecular causes underlying …

es, fr, us, nl, fi, de, gb, pt, it, se, cz, be, ca (code pays fourni par la source)

Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Dagmar Timmann, Corrie E. Erasmus, Jennifer Reichbauer, Melanie Wayand et autres

Rare genetic neurological disorders (RND; ORPHA:71859) are a heterogeneous group of disorders comprising >1700 distinct genetic disease entities. However, genetic discoveries have not yet translated into dramatic increases of diagnostic yield and indeed rates of molecular genetic diagnoses have been stuck at …

de, nl, be, hu, fr, gb, es, si, us (code pays fourni par la source)

Crypt4GH: a file format standard enabling native access to encrypted data

Alexander Senf, Robert M. Davies, Frédéric Haziza, John Marshall et autres

MOTIVATION: The majority of genome analysis tools and pipelines require data to be decrypted for access. This potentially leaves sensitive genetic data exposed, either because the unencrypted data is not removed after analysis, or because the data leaves traces on the permanent …

gb, us, es, ch, au (code pays fourni par la source)

CORBEL Prototype implementation of distributed automated data access request, review and authorization and delivery systems

Mikael Lindén, Jan‐Willem Boiten, Mélanie Courtot, Petr Holub et autres

This deliverable describes research infrastructures’ prototypes for granting a researcher an authorisation to access research data encouraging secondary use of data that is already collected. This deliverable further describes prototypes for delivering the decision on the granted access rights to the environment …

us, nl, gb, at, fi (code pays fourni par la source)