Ruedi Fries

This study compares the impact of two cattle reference genomes on genomic analyses, finding negligible differences in most tasks but significant effects on selection signature detection.

A GWAS identifies a BMP15 nonsense mutation in pigs causing infertility and increased litter size, with trade-offs in lean meat growth.

The paper identifies a deletion in the BOLL gene in pigs causing defective acrosomes and subfertility.

The paper identifies a recessive allele in WDR19 associated with reduced semen quality and male fertility in cattle, showing it activates cryptic splicing and reduces protein expression.

The paper identifies a splice donor variant in CCDC189 associated with asthenospermia in Nordic Red cattle and integrates findings into the OMIA database.

The paper develops two new SNP arrays for horses, MNEc2M and MNEc670k, and demonstrates their imputation capabilities.

This study evaluates imputation accuracy in cattle and identifies QTL for milk fat percentage using imputed variants.

This study identifies a nonsense mutation in the COL7A1 gene causing epidermolysis bullosa in Vorderwald cattle through genome-wide association and haplotype analysis.

This study identifies a missense mutation in TUBD1 linked to high juvenile mortality in Braunvieh and Fleckvieh cattle, associated with chronic airway disease due to defective cilia.

The paper identifies a frameshift mutation in GON4L causing dwarfism in Fleckvieh cattle by linking it to growth restriction and craniofacial abnormalities through genomic analysis.

The paper uses imputed sequence variants from key ancestors to identify twelve QTL for mammary gland morphology in Fleckvieh cattle, highlighting regulatory mutations as key factors.