The overall aim of this project is to improve equine health and welfare by identifying causative mutations for inherited diseases to aid informed breeding of healthy horses. We will use a comparative genomics approach, combining whole-genome sequencing (WGS) and bioinformatics with state-of-the-art clinical diagnosis of disease phenotypes. In the project a general framework for mutation-detection of equine monogenetic diseases will be developed. The initial focus will be on anophthalmia and microphthalmia, potentially autosomal recessive disease/s, recently observed among Swedish Warmblood horses. The objectives of the study are to:
1. clinically define monogenic diseases with autosomal recessive inheritance,
2. develop a general framework for identifying disease causing mutation with a bioinformatics pipeline for whole-genome sequencing,
3. develop a plan for breeding advise in different scenarios of inheritance patterns, and severity of the disease.