rare2013

This plot shows the number of rare variants transmitted from each parent to the child in a sample of patient-parents trios. Rare variants were defined as less than 1% in the 1000 Genomes project and Exome Variant server with sufficient read depth (>15) and absent from segmental duplication. The number of rare variants transmitted from father and mother appears to be quite stable between trios – with the exception of DRA8, where the proband does not seem to be the parents’ child.

Ingo Helbig

Child Neurology Fellow and epilepsy genetics researcher at the Children’s Hospital of Philadelphia (CHOP), USA and Department of Neuropediatrics, Kiel, Germany

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