Browsing Departament de Medicina i Ciències de la Vida by Author "Machiela, Mitchell J."

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Characterization of large structural genetic mosaicism in human autosomes

Machiela, Mitchell J.; Real, Francisco X.; Rodríguez Santiago, Benjamín; Pérez Jurado, Luis Alberto; Chanock, Stephen J. (Elsevier, 2015)

Analyses of genome-wide association study (GWAS) data have revealed that detectable genetic mosaicism involving large (>2 Mb) structural autosomal alterations occurs in a fraction of individuals. We present results for a ...
Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome

Machiela, Mitchell J.; Real, Francisco X.; Rodriguez-Santiago, Benjamin; Pérez Jurado, Luis Alberto; Chanock, Stephen J. (Nature Publishing Group, 2016)

To investigate large structural clonal mosaicism of chromosome X, we analysed the SNP microarray intensity data of 38,303 women from cancer genome-wide association studies (20,878 cases and 17,425 controls) and detected ...

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