Ruedi Fries

Investigating the impact of reference assembly choice on genomic analyses in a cattle breed

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 nonsense mutation of bone morphogenetic protein-15 (BMP15) causes both infertility and increased litter size in pigs.

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

Deletion of porcine BOLL causes defective acrosomes and subfertility in Yorkshire boars

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

Activation of cryptic splicing in bovine WDR19 is associated with reduced semen quality and male fertility

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.

A splice donor variant in CCDC189 is associated with asthenospermia in Nordic Red dairy cattle

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

Meta-Analysis Of Sequence-Based Association Studies Across Three Cattle Breeds Reveals 25 QTL For Fat And Protein Percentages In Milk At Nucleotide Resolution

Developing a 670k genotyping array to tag ~2M SNPs across 24 horse breeds

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

Evaluation of the accuracy of imputed sequence variants and their utility for causal variant detection in cattle

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

A nonsense mutation in the COL7A1 gene causes epidermolysis bullosa in Vorderwald cattle

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

A missense mutation in TUBD1 is associated with high juvenile mortality in Braunvieh and Fleckvieh cattle

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.

A frameshift mutation in GON4L is associated with proportionate dwarfism in Fleckvieh cattle

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.

A multi-trait meta-analysis with imputed sequence variants reveals twelve QTL for mammary gland morphology in Fleckvieh cattle

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.