Sökning: "variant calling"

Visar resultat 1 - 5 av 7 avhandlingar innehållade orden variant calling.

  1. 1. Analysis of RNA and DNA sequencing data : Improved bioinformatics applications

    Författare :Benjamín Sigurgeirsson; Joakim Lundeberg; Simon Anders; KTH; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; RNA sequencing; exome sequencing; bioinformatics; gene expression; differential expression; variant calling; Bioteknologi; Biotechnology;

    Sammanfattning : Massively parallel sequencing has rapidly revolutionized DNA and RNA research. Sample preparations are steadfastly advancing, sequencing costs have plummeted and throughput is ever growing. This progress has resulted in exponential growth in data generation with a corresponding demand for bioinformatic solutions. LÄS MER

  3. 2. The roles of demography and natural selection in shaping genome-wide variation of Norway spruce

    Författare :Xi Wang; Pär K. Ingvarsson; Carolina Bernhardsson; Xiao-Ru Wang; Nathaniel Street; Tanja Pyhäjärvi; Umeå universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Norway spruce; whole-genome resequencing; variant calling; genetic linkage map; nucleotide diversity; natural selection;

    Sammanfattning : Understanding the relative contribution of genetic drift, natural selection, and mutation to genetic variation, and quantifying adaptive evolution and the effects of natural selection in species are enduring goals of evolutionary genetics. Norway spruce (Picea abies) is one of the most important conifer species that dominates from both an ecological and economical point of view in many boreal ecosystems. LÄS MER

  4. 3. Next generation molecular diagnostics using ultrasensitive sequencing

    Författare :Stefan Filges; Göteborgs universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Liquid biopsy; cell-free DNA; circulating tumor DNA; molecular diagnostics; next-generation sequencing; unique molecular identifiers; melanoma;

    Sammanfattning : Massively parallel sequencing enables the exploration of the genetic heterogeneity within microbial, viral and tumor cell populations. Detecting circulating tumor DNA in blood and other body fluids has the potential to revolutionize molecular diagnostics. LÄS MER

  5. 4. Methods for deep examination of DNA

    Författare :Mårten Neiman; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :massive parallel sequencing;

    Sammanfattning : The development of sequencing technology has had a rapid pace during the last years and today, the sequencing instruments harbors enormous capacity. This thesis is about the development of methods to make the most out of this capacity and to use it for various applications. LÄS MER

  7. 5. Human demographic history : Insights on the human past based on genomes from Southern through Central Africa

    Författare :Gwenna Breton; Mattias Jakobsson; Carina Schlebusch; Per Sjödin; Paul Verdu; David Comas; Uppsala universitet; []
    Nyckelord :high-coverage genomes; Sub-Saharan Africa; demography; genetic admixture; population genetics; human evolutionary genetics; Khoe-San; rainforest hunter-gatherers; Biology with Specialisation in Human Evolution and Genetics; Biologi med inriktning mot människans evolution och genetik;

    Sammanfattning : Evidence from paleontology, archaeology and population genetics support that modern humans originated in Africa. While the out-of-Africa event and subsequent colonization of all continents are well documented, human history in Africa at that time and before is less studied. LÄS MER