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The Contribution of Mosaic Variants to Autism Spectrum Disorder

Fig 1

Confirmation of mosaic status by sequence read phasing.

Phasing of a de novo variant confirms mosaic status of a variant in OR4M2 in individual 12977.s1. The heterozygous variant on the left is inherited (green pattern; unknown parental origin). The deletion on the right was identified as occurring de novo. The presence of multiple reads (box) containing the inherited allele but not the de novo variant demonstrates the occurrence of three distinct haplotypes implying post-zygotic origin and mosaicism.

Fig 1