Sökning: "systems genetics"

Visar resultat 1 - 5 av 122 avhandlingar innehållade orden systems genetics.

  1. 1. Tagging systems for sequencing large cohorts

    Författare :Mårten Neiman; Afshin Ahmadian; Peter Savolainen; KTH; []
    Nyckelord :NATURAL SCIENCES; NATURVETENSKAP; NATURVETENSKAP; NATURAL SCIENCES; next generation sequencing; genotyping; massive parallel sequencing; 454; Pyrosequencing; amplicon sequencing; enrichment; DNA barcodes; Genetics; Genetik;

    Sammanfattning : Advances in sequencing technologies constantly improves the throughput andaccuracy of sequencing instruments. Together with this development comes newdemands and opportunities to fully take advantage of the massive amounts of dataproduced within a sequence run. LÄS MER

  2. 2. 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 :NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURVETENSKAP; NATURVETENSKAP; NATURVETENSKAP; NATURAL SCIENCES; NATURAL SCIENCES; 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. 3. On Transcriptome Sequencing

    Författare :Daniel Klevebring; Joakim Lundeberg; Ulf Gyllensten; KTH; []
    Nyckelord :NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; NATURVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; NATURAL SCIENCES; MEDICAL AND HEALTH SCIENCES; Transcriptome; RNA-seq; DNA sequencing; gene expression profiling; non-coding RNA; small RNA; Functional genomics; Funktionsgenomik; Bioinformatics; Bioinformatik; Genetics; Genetik; Molecular biology; Molekylärbiologi; Cell biology; Cellbiologi;

    Sammanfattning : This thesis is about the use of massive DNA sequencing to investigate the transcriptome. During recent decades, several studies have made it clear that the transcriptome comprises a more complex set of biochemical machinery than was previously believed. LÄS MER

  4. 4. Genetics of Two Mendelian Traits and Validation of Induced Pluripotent Stem Cell (iPSC) Technology for Disease Modeling

    Författare :Doroteya Raykova; Niklas Dahl; Ann Nordgren; Uppsala universitet; []
    Nyckelord :NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; NATURVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; NATURAL SCIENCES; MEDICAL AND HEALTH SCIENCES; Disease modeling; Mendelian disorders; iPSC; Whole exome sequencing; Transcriptome sequencing; Medical Science; Medicinsk vetenskap;

    Sammanfattning : Novel technologies for genome analysis have provided almost unlimited opportunities to uncover structural gene variants behind human disorders. Whole exome sequencing (WES) is especially useful for understanding rare Mendelian conditions, because it reduces the requirements for a priori clinical data, and can be applied on a small number of patients. LÄS MER

  5. 5. Novel Statistical Methods in Quantitative Genetics : Modeling Genetic Variance for Quantitative Trait Loci Mapping and Genomic Evaluation

    Författare :Xia Shen; Örjan Carlborg; Lars Rönnegård; William Hill; Uppsala universitet; []
    Nyckelord :NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURVETENSKAP; NATURVETENSKAP; NATURAL SCIENCES; NATURAL SCIENCES; NATURAL SCIENCES; NATURVETENSKAP; NATURVETENSKAP; NATURAL SCIENCES; statistical genetics; quantitative trait loci; genome-wide association study; genomic selection; genetic variance; hierarchical generalized linear model; linear mixed model; random effect; heteroscedastic effects model; variance-controlling genes; Complex Systems – Microdata Analysis; Komplexa system - mikrodataanalys;

    Sammanfattning : This thesis develops and evaluates statistical methods for different types of genetic analyses, including quantitative trait loci (QTL) analysis, genome-wide association study (GWAS), and genomic evaluation. The main contribution of the thesis is to provide novel insights in modeling genetic variance, especially via random effects models. LÄS MER