Rare variant analysis of trios with GATK using two different batches. Batch 2 show a larger number of rare variants transmitted from father and mother to the affected child. This difference between batches is probably due to a small change in the reference genome that has been used for variant calling.
Child Neurology Fellow and epilepsy genetics researcher at the Children’s Hospital of Philadelphia (CHOP), USA and Department of Neuropediatrics, Kiel, Germany
