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A deletion inferred from mismatching genotype data

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posted on 2012-07-16, 15:56 authored by Gustavo Glusman, Mike Cariaso, Rafael Jimenez, Daniel Swan, Bastian Greshake, Jong Bhak, Darren W Logan, Manuel CorpasManuel Corpas

The genotypes observed for the Mother (M) and Daughter (D) in the range 41,092,148-41,101,972 of chromosome 2 are mutually incompatible (Mendelian Inheritance Errors, highlighted in red). Genotypes for the Father (F) are shown for reference. Heterozygous sites are highlighted in grey. The simplest explanation for the cluster of incompatible genotypes is the presence of a deletion in the Mother''s genome, inherited by the Daughter. Both Mother and Daughter are thus hemizygous in this region. Right panel: inferred genotypes, showing the deleted segment inherited from Mother (blue) and the phased haplotype inherited from Father (yellow).