Sökning: "haplotype inference"

Visar resultat 1 - 5 av 9 avhandlingar innehållade orden haplotype inference.

  1. 1. Two Optimization Problems in Genetics : Multi-dimensional QTL Analysis and Haplotype Inference

    Författare :Carl Nettelblad; Sverker Holmgren; José M. Álvarez-Castro; Jukka Corander; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; quantitative trait loci; genome-wide association studies; hidden Markov models; numerical optimization; linkage analysis; haplotype inference; genotype imputation; high performance computing;

    Sammanfattning : The existence of new technologies, implemented in efficient platforms and workflows has made massive genotyping available to all fields of biology and medicine. Genetic analyses are no longer dominated by experimental work in laboratories, but rather the interpretation of the resulting data. LÄS MER

  3. 2. Genetic factors affecting pregnancy duration in humans

    Författare :Jonas Bacelis; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; genomics; GWAS; Mendelian randomization; causal inference; preterm birth; pregnancy; gestation; height; text mining;

    Sammanfattning : This thesis investigates the mechanisms behind human pregnancy duration. Too short gestation is a direct cause of perinatal, neonatal, and infant mortality. Deviation from normal pregnancy length is also associated with a child's morbidity, even in the adulthood. LÄS MER

  4. 3. Computational statistical methods for genotyping biallelic DNA markers from pooled experiments

    Författare :Camille Clouard; Carl Nettelblad; Lars Rönnegård; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES;

    Sammanfattning : The information conveyed by genetic markers such as Single Nucleotide Polymorphisms (SNPs) has been widely used in biomedical research for studying human diseases, but also increasingly in agriculture by plant and animal breeders for selection purposes. Specific identified markers can act as a genetic signature that is correlated to certain characteristics in a living organism, e. LÄS MER

  5. 4. Methodology and Infrastructure for Statistical Computing in Genomics : Applications for Ancient DNA

    Författare :Kristiina Ausmees; Carl Nettelblad; Mattias Jakobsson; Flora Jay; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; statistical computing; genotype imputation; ancient DNA; deep learning; dimensionality reduction; genetic clustering; distributed computing; Scientific Computing; Beräkningsvetenskap;

    Sammanfattning : This thesis concerns the development and evaluation of computational methods for analysis of genetic data. A particular focus is on ancient DNA recovered from archaeological finds, the analysis of which has contributed to novel insights into human evolutionary and demographic history, while also introducing new challenges and the demand for specialized methods. LÄS MER

  7. 5. Spatial Statistics and Ancestral Recombination Graphs with Applications in Gene Mapping and Geostatistics

    Författare :Linda Werner Hartman; Matematisk statistik; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Genetik; Genetics; cytogenetics; cytogenetik; genetic association analysis; ancestral recombination graph Generalized linear mixed models; kriging; bilinear interpolation; Gaussian Markov random fields; Statistics;

    Sammanfattning : This thesis explores models and algorithms in geostatistics and gene mapping. The first part deals with the use of computationally effective lattice models for inference of data with a continuous spatial index. LÄS MER