DISSERTATION HUBERT PAUSCH

Furthermore, the P-values obtained using the high-density SNP panel are clearly smaller than those obtained using the medium-density SNP panel Figure 3. The black lines represent the minimum and maximum imputation accuracy for six chromosomes. Stillbirth is recorded as categorical trait alive or not 48 hours post partum. Skin and coat pigmentation traits have been studied and characterized extensively in humans see [10] for a review , in laboratory animals [11] and in domestic animals see [12] for a review. Introduction Supernumerary teats hyperthelia, SNTs represent a common abnormality of the bovine udder.

A detailed overview of the number of SNPs and animals not passing the quality criteria is given in Table S1. C Heatmap of the pairwise linkage disequilibrium r2. A subset of principal components was extracted to represent the relatedness between animals with the PCA-based model, while the entire SNP information was incorporated in the genomic relationship matrix for the mixed model. Unresolved inconsistencies led to the exclusion of 23 animals Supporting Figure 1. Theoretical Population Biology, 2 2 , pp. Log In Sign Up. In the present thesis, QTL could be identified on chromosomes explaining a large fraction of the trait variation Figure 2.

The associated region on bovine chromosome 14 is conserved in human chromosome 8q21 which has been shown to be associated with adult height [22]. Swiss Association for Animal Sciences. Progeny records were available for individuals only.

Number of animals for each of the three datasets after quality control Dataset 54Kv1 54Kv2 K 54Kv1 2, – 54Kv2 – K Numbers along the diagonal represent the final number of animals for the two medium-density 54Kv1, 54Kv2 and for the high-density K dataset, respectively. The boxplots show the results for allele frequency bins of 2.

Qianqian Zhang: Towards Cattle Precision Breeding Using Next Generation Sequencing

Both approaches have already been successfully applied to identifying QTL in highly structured cattle populations e. Genetic variation in PLAG1 associates with early life body weight and peripubertal weight and growth in Bos taurus. Journal of the American Academy of Dermatology Detailed view of the region on chromosome 14 delineated by the haplotype associated with the estimated breeding value EBV for paternal calving ease pCE.

  CURRICULUM VITAE BY LISEL MUELLER

Besides the relative contribution of a QTL to the trait variation, the heritability of the trait is a major determinant of the mapping power [1].

Effect of the most significantly associated markers on the estimated breeding value EBV for paternal calving ease pCE in the Fleckvieh breed.

dissertation hubert pausch

Effect of different marker densities on the chromosomal partitioning of the genetic variance. Variations of skin and coat colours naturally arose in the course of adaption to altering environmental conditions, e. The identified candidate genes permit insights in the genetic architecture of teat malformations in cattle and provide clues to unravel the molecular mechanisms of mammary gland alterations in cattle and other species.

dissertation hubert pausch

During her studies, Qianqian Zhang has explored different strategies on utilization of whole genome sequence variants from next generation sequencing in cattle breeding. In the present thesis, QTL could be identified on chromosomes explaining a large fraction of the trait variation Figure 2.

Research area The main research area of Hubert Pausch is the development and implementation of statistical and bioinformatic approaches for combining sequence data from key animals in a population with incomplete data from animals from the genomic selection.

Refinement of a QTL on chromosome 5 associated with milk fat percentage using re-sequencing data.

Qianqian Zhang: Towards Cattle Precision Breeding Using Next Generation Sequencing

Mechanisms of Development The results confirm that ambilateral circumocular pigmentation ACOP is highly heritable in cattle [80]. The results in Chapter 4 demonstrate that twelve major QTL indeed account for The barplots display the proportion of correctly imputed genotypes averaged over six chromosomes for four different scenarios with increasing sizes of the reference population. An important prerequisite for unbiased QTL mapping based on linkage disequilibrium LD is homogeneity of the mapping population [11].

  OCEANARIUM THESIS SYNOPSIS

Genotype imputation allows to combine different datasets and to infer missing genotypes in silico [25].

Pausch, Hubert, Prof. Dr. | ETH Zurich

Nat Rev Genet The grey and blue bars indicate the fraction of phenotypic variance attributed to a particular chromosome and QTL region, respectively. A subset of principal components was extracted to represent the relatedness between animals with the PCA-based model, while the entire SNP information was incorporated in the genomic relationship matrix for the mixed model.

Among them, eight met the Bonferroni-corrected threshold for genome-wide significance, four were significantly associated on a chromosome-wide scale.

Genome-wide association studies based on genome-wide SNP panels offer a new powerful approach to identify genomic regions underlying phenotypic variation QTL of complex traits.

dissertation hubert pausch

Frontiers in Livestock Genomics 2: Manhattan plot of association ofSNPs with the proportion of daughters with ambilateral circumocular pigmentation in bulls of the Fleckvieh breed.

Genome Research, 17 4pp. Proceedings of the National Academy of Sciences The SNP affects a polyadenylation site.

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The proportion of trait variance explained by an average QTL is very small. Enter the email address you signed up with and we’ll email you a reset link.

In the meantime Karim et al.