Publications by authors named "Barrabes M"

Background: Polygenic risk scores (PRS) derived from European individuals have reduced portability across global populations, limiting their clinical implementation at worldwide scale. Here, we investigate the performance of a wide range of PRS models across four ancestry groups (Africans, Europeans, East Asians, and South Asians) for 14 conditions of high-medical interest.

Methods: To select the best-performing model per trait, we first compared PRS performances for publicly available scores, and constructed new models using different methods (LDpred2, PRS-CSx and SNPnet).

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The generation of synthetic genomic sequences using neural networks has potential to ameliorate privacy and data sharing concerns and to mitigate potential bias within datasets due to under-representation of some population groups. However, there is not a consensus on which architectures, training procedures, and evaluation metrics should be used when simulating single nucleotide polymorphism (SNP) sequences with neural networks. In this paper, we explore the use of Generative Moment Matching Networks (GMMNs) for SNP simulation, we present some architectural and procedural changes to properly train the networks, and we introduce an evaluation scheme to qualitatively and quantitatively assess the quality of the simulated sequences.

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We analyze dog genotypes (i.e., positions of dog DNA sequences that often vary between different dogs) in order to predict the corresponding phenotypes (i.

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This work examines NiTi foams that have been treated using a new oxidation treatment for obtaining Ni-free surfaces that could allow the ingrowth of living tissue, thereby increasing the mechanical anchorage of implants. A significant increase in the real surface area of these materials can decrease corrosion resistance and favour the release of Ni. This chemical degradation can induce allergic reactions or toxicity in the surrounding tissues.

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We are reporting here a case of chondrosarcoma of the soft tissues of the thoracic wall. As far as we can tell it is the first case published in the world. The tumour appeared 13 years after radical mastectomy and radiotherapy for an adenocarcinoma of the breast.

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