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Found 4 swedish dissertations matching the above criteria.

  2. 1. A Bioinformatics Study of Human Transcriptional Regulation

    Author : Adam Ameur; Jan Komorowski; Claes Wadelius; Philipp Bucher; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; bioinformatics; microarray; ChIP-chip; ChIP-seq; transcription factor; histone modification; motif search; Bioinformatics; Bioinformatik;

    Abstract : Regulation of transcription is a central mechanism in all living cells that now can be investigated with high-throughput technologies. Data produced from such experiments give new insights to how transcription factors (TFs) coordinate the gene transcription and thereby regulate the amounts of proteins produced. READ MORE

  4. 2. Genetic Cartography at Massively Parallel Scale

    Author : Johan Dahlberg; Ann-Christine Syvänen; Adam Ameur; Michael C. Zody; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; NATURVETENSKAP; NATURAL SCIENCES; Acute Lymphoblastic Leukemia ALL ; RNA-Sequencing; Bioinformatics; Pooling; Whole Genome Sequencing; Medicinsk genetik; Medical Genetics; Bioinformatics; Bioinformatik;

    Abstract : Massively parallel sequencing (MPS) is revolutionizing genomics. In this work we use, refine, and develop new tools for the discipline.MPS has led to the discovery of multiple novel subtypes in Acute Lymphoblastic Leukemia (ALL). In Study I we screen for fusion genes in 134 pediatric ALL patients, including patients without an assigned subtype. READ MORE

  5. 3. Targeted Long-read Sequencing : Development and Applications in Medical Genetics

    Author : Ida Höijer; Ulf B. Gyllensten; Adam Ameur; Lars Feuk; Winston Timp; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; long-read sequencing; targeted sequencing; targeted enrichment; CRISPR-Cas9; off-targets; medical genetics; repeat expansion; structural variant;

    Abstract : Targeted sequencing has the advantage of providing pinpointed DNA information, while costs and data-analysis efforts are reduced. If targeted sequencing is combined with single molecule long-read sequencing, it can become a powerful tool to investigate genomic regions traditionally difficult using the predominantly used short-read sequencing platforms, including repetitive regions and large structural variants. READ MORE

  6. 4. The role of hematopoietic chromosome Y loss in health and disease

    Author : Jonas Mattisson; Lars A. Forsberg; Jonatan Halvardson; Adam Ameur; Andrea Ganna; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; loss of chromosome Y; LOY; mosaic loss of chromosome Y; mLOY;

    Abstract : Mosaic loss of chromosome Y (mLOY) is the most common somatic mutation, and affected men have increased risk for all major causes of death, including cardiovascular diseases and cancer. As a male specific mutation, it helps explain why men live shorter lives than women. READ MORE