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  1. 1521

    Bioinformatics in Biomedical Analysis and its impact on Personalized Medicine by Gamarra, Marcelo D., Brizuela, Belén M.

    Published 2024
    “…Beyond all intermediate steps, variant interpretation is the decisive stage of the entire process. In this phase, factors such as heritability, penetrance, clinical impact, and population frequency are evaluated, determining whether variants are pathogenic, benign, or of uncertain significance, according to various criteria like those established by the American College of Medical Genetics and Genomics (ACMG). …”
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  2. 1522

    Ciudades para las personas by Julio Rodríguez Costa

    Published 2015
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    Libros Digitales
  3. 1523
  4. 1524
  5. 1525

    Estrategias de adaptación de líquenes a ambientes áridos by Prado Millán, Ruth del

    Published 2002
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    Libros Digitales
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  8. 1528

    El gen "transformer-2" de "Anastrepha" (Diptera, Tephritidae) by Sarno, Francesca

    Published 2010
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    Libros Digitales
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  14. 1534

    From Sequencing to Variant Analysis: Exploring Sequencing Data Files in Clinical Genomics by Bogado, Rodrigo F. E., Gamarra, Marcelo D.

    Published 2024
    “…This process involves a thorough evaluation of the clinical relevance of each variant, considering factors such as heritability, penetrance, clinical impact, and population frequency. …”
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  15. 1535

    Applied statistics as an educational tool for undergraduate genetics students within the curriculum of biostatistics and experimental design, informed by data and insights from the... by Villalba, Eliseo G., Bogado, Rodrigo E. F., Rolón, Esteban E., Gamarra, Marcelo

    Published 2024
    “…Cancer risk analysis involves estimating the probabilities of carrying a genetic variant and evaluating risks based on individual and family factors. IGeHM collects data from cancer patients, generating a variety of relevant variables. …”
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