2020•Human GeneticsOpen access

Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East

Flavia Palombo, Claudio Graziano, Nadia Al-Wardy, Nayereh Nouri, Caterina Marconi, Pamela Magini, Giulia Severi, Chiara La Morgia, Gaetano Cantalupo, Duccio Maria Cordelli, Simone Gangarossa, Mohammed Nasser Al Kindi, Mazin Al Khabouri, Mansoor Salehi, Elisa Giorgio, Alfredo Brusco, F Pisani, G. Cara Romeo, Valério Carelli, Tommaso Pippucci, Marco Seri

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Key concepts: Consanguinity, Runs of Homozygosity, Disease gene identification, Biology, Genetics, Candidate gene, Exome sequencing, Exome