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Article

AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data.

Nature communications - 22 Jan 2021

Quinodoz Mathieu, Peter Virginie G, Bedoni Nicola, Royer Bertrand Béryl, Cisarova Katarina, Salmaninejad Arash, Sepahi Neda, Rodrigues Raquel, Piran Mehran, Mojarrad Majid, Pasdar Alireza, Ghanbari Asad Ali, Sousa Ana Berta, Coutinho Santos Luisa, Superti-Furga Andrea, Rivolta Carlo

Abstract excerpt

Homozygosity mapping is a powerful method for identifying mutations in patients with recessive conditions, especially in consanguineous families or isolated populations. Historically, it has been used in conjunction with genotypes from highly polymorphic markers, such as DNA microsatellites or common SNPs. Traditional software performs rather poorly with data from Whole Exome Sequencing (WES) and Whole Genome...

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PMID: 33483490
DOI: 10.1038/s41467-020-20584-4
PMCID: PMC7822856

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