Sökning: "Exome"

Visar resultat 6 - 9 av 9 uppsatser innehållade ordet Exome.

  1. 6. 1 – DNA methylation quantification analysis in different human soft tussues for forensic purposes 2 – Whole exome sequencing data analysis for geneic alteration in heart malfunctioning

    Master-uppsats, SLU/Dept. of Animal Breeding and Genetics

    Författare :Ahmed Arslan; [2014]
    Nyckelord :DNA methylation; epigenetics; SNP; genetic tests;

    Sammanfattning : REPORT 1. DNA methylation plays quite an important role in the mammalian genomes absolute functions. With the advancement in the epigenetics, it has been shown that the DNA methylation is a variable factor with respect to the age, differentially present in different human tissue types and may also be influenced by different life styles. LÄS MER

  3. 7. Variant Calling and Microarray Expression Analysis in Pancreatic Islet Samples

    Master-uppsats, Lunds universitet/Examensarbeten i bioinformatik

    Författare :Olof Asplund; [2014]
    Nyckelord :Biology and Life Sciences;

    Sammanfattning : Abstract This article describes the creation of a pipeline for variant calling from high-throughput next-generation exome and RNA sequencing data using commonly used bioinformatics tools. High-throughput sequencing data from six pancreatic islet cell samples were analyzed using the pipeline, and the resulting variant calls were validated against chip genotyping data from the same individuals. LÄS MER

  4. 8. Towards single-cell exome sequencing with spatial resolution in tissue sections

    Master-uppsats, KTH/Skolan för bioteknologi (BIO)

    Författare :Emanuela Henao Diaz; [2013]
    Nyckelord :Genome mutation exon single cell;

    Sammanfattning : .... LÄS MER

  5. 9. Coverage analysis and visualization in clinical exome sequencing

    Master-uppsats, KTH/Skolan för bioteknologi (BIO)

    Författare :Robin Andeer; [2013]
    Nyckelord :Exome; clinical sequencing; software; GC content;

    Sammanfattning : Motivation: The advent of clinical exome sequencing will require new tools to handlecoverage data and making it relevant to clinicians. That means genes over targets, smartsoftware over BED-files, and full stack, automated solutions from BAM-files to genetic testreport. LÄS MER