Coverage of the BMPR1A gene was 100% at ≥15x calculated from reads with mapping quality >10 and >85x10^9 bases with Q≥30, after removing duplicate reads and overlapping bases after adaptor and quality trimming.WGS data analysed from the Skeletal Dysplasia Panel (R104 ~450 genes, including ACVR1 which causes FOP) demonstrated a heterozygous variant of unknown significance (c.1460T>A, p.(Val487Asp)) in BMPR1B (Fig. 3). This evidence concerns the gene BMPR1B and skeletal dysplasia.