Article
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.
Human genetics - 1 Nov 2020
Palombo Flavia, Graziano Claudio, Al Wardy Nadia, Nouri Nayereh, Marconi Caterina, Magini Pamela, Severi Giulia, La Morgia Chiara, Cantalupo Gaetano, Cordelli Duccio Maria, Gangarossa Simone, Al Kindi Mohammed Nasser, Al Khabouri Mazin, Salehi Mansoor, Giorgio Elisa, Brusco Alfredo, Pisani Francesco, Romeo Giovanni, Carelli Valerio, Pippucci Tommaso, Seri Marco
Abstract excerpt
Autozygosity-driven exome analysis has been shown effective for identification of genes underlying recessive diseases especially in countries of the so-called Greater Middle East (GME), where high consanguinity unravels the phenotypic effects of recessive alleles and large family sizes facilitate homozygosity mapping. In Italy, as in most European countries, consanguinity is estimated low. Nonetheless,...
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