Targeted enrichment to elucidate the Holstein-Frisian haplotypes HH5 and CDH

We have used targeted enrichment NGS sequencing to elucidate the causative mutations for two important disorders in HF-cattle. HH5, which was defined as one of the recessive haplotypes derived from large scale SNP-genotyping data and was be positioned to BTA9 is found to be caused by a 138kbp deletion. Cholesterol deficiency, which ws positioned to BTA11 is caused by an insertion into the coding region of APOB, causing a premature stop codon.