Figure 2. RFC1 Screening by Next-Generation Sequencing.

Integrative genomics viewer visualization of exome (P2.1, P10) and genome (P9) sequencing reads aligned to the repeat locus and flanking regions showing the presence of a mutated AAGGG repeat motif. Sequence reads from both directions are interrupted and do not span the entire length of the repeat expansion. The repeated AAGGG motif does not map to the (AAAAG)₁₁ reference sequence, and reads showing the sequence alteration are soft-clipped. The lower panel shows sequence reads from a control genome dataset. RFC1 = replication factor complex subunit 1.