Extended Data Fig. 2: Parental origin of chromosome 1q SNVs.
From: Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy
a, Variant allele fractions for SNVs found on chromosome 1q in Patient 1 brain, blood, buccal, and parental blood samples, demonstrating that these SNVs represent an extra chromosome 1q allele of maternal origin. b, OncoScan array results for Patient 1 trio demonstrating a chromosome 1q gain in proband brain tissue but no gain observed in blood samples from either parent, showing the parents are karyotypically normal. c, Variant allele fractions for a small number of representative chromosome 1q SNVs in available tissues from Patients 4, 5, and 6.
