Figure 1

Associated and fixed regions in Doberman Pinschers are enriched for brain-related pathways. (a) The original GWAS dataset showed a single peak of association at CDH2[14]. (b) Recalling with MAGIC yielded a 2.4-fold denser SNP dataset and allowed us to define 17 distinct regions of association with P < 0.0001 using linkage disequilibrium (LD) clumping (Figure S1 in Additional file 1), a subset of which were targeted for sequencing (red dots, genes labeled above peak). (c) In four breeds with high rates of OCD, we identified regions of fixation (black boxes), a subset of which we targeted for sequencing (red boxes). Sequenced regions were selected because they were large and overlapping between breeds (Table S1 in Additional file 1). (d) LD clumping identified three distinct regions of association on chromosome 7 (boxes, with targeted regions in red). (e) The top Gene Ontology gene sets enriched in the GWAS regions. (f) GO gene sets enriched in Doberman Pinscher regions of reduced variability (RRVs) but not in 24 other breeds (grey circles, most at 0).