Browsing by Author "López Sánchez, Marcos, 1986-"

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  • Circular DNA intermediates in the generation of large human segmental duplications
    Chicote, Javier U.; López Sánchez, Marcos, 1986-; Marquès i Bonet, Tomàs, 1975-; Callizo, José; Pérez Jurado, Luis Alberto; García-España, Antonio (BioMed Central, 2020)
    Background: Duplications of large genomic segments provide genetic diversity in genome evolution. Despite their importance, how these duplications are generated remains uncertain, particularly for distant duplicated genomic ...
  • Contribution of unexplored genomic variations to neurodevelopmental disorders
    López Sánchez, Marcos, 1986- (Universitat Pompeu Fabra, 2018-02-05)
    Neurodevelopmental disorders are a group of conditions with impairments of the personal, social, academic or occupational behaviour. Autism spectrum disorder is a neurodevelopmental disorder with a high genetic component ...
  • MADloy: robust detection of mosaic loss of chromosome Y from genotype-array-intensity data
    González, Juan Ramón; López Sánchez, Marcos, 1986-; Cáceres, Alejandro; Puig, Pere; Esko, Tõnu; Pérez Jurado, Luis Alberto (BioMed Central, 2020)
    Background: Accurate protocols and methods to robustly detect the mosaic loss of chromosome Y (mLOY) are needed given its reported role in cancer, several age-related disorders and overall male mortality. Intensity SNP-array ...
  • ScoreInvHap: inversion genotyping for genome-wide association studies
    Ruiz-Arenas, Carlos; Cáceres, Alejandro; López Sánchez, Marcos, 1986-; Tolosana, Ignacio; Pérez Jurado, Luis Alberto; González Ruiz, Juan Ramón (Public Library of Science (PLoS), 2019)
    Polymorphic inversions contribute to adaptation and phenotypic variation. However, large multi-centric association studies of inversions remain challenging. We present scoreInvHap, a method to genotype inversions from SNP ...