Analysis strategy in the publication by McDonell and collaborators. The researchers looked for the cause of the primary autosomal recessive microcephaly (MCPH) in a family with four affected siblings (upper left corner). They performed exome sequencing in one family member and used stringent filtering to zoom in on the culprit mutation, a homozygous single base pair insertion in WDR62 (right panel). This mutation was confirmed through Sanger sequencing (lower left panel). The figure was adapted from the open access publication by the authors under a creative commons licence. Source: http://www.biomedcentral.com/1471-2377/14/22)

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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