Sökning: "genetic screen"

Visar resultat 11 - 15 av 123 avhandlingar innehållade orden genetic screen.

  1. 11. Genetic Cartography at Massively Parallel Scale

    Författare :Johan Dahlberg; Ann-Christine Syvänen; Adam Ameur; Michael C. Zody; Uppsala universitet; []
    Nyckelord :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;

    Sammanfattning : 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. LÄS MER

  3. 12. Genetic mapping and association analysis in multiple sclerosis

    Författare :Eva Åkesson; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Multiple sclerosis; genetic; linkage; association; susceptibility;

    Sammanfattning : Multiple sclerosis (MS) is a chronic neurological disease. Epidemiological studies have shown evidence for both environmental and genetic involvement of the disease. LÄS MER

  4. 13. Molecular genetic alterations in chemically-induced lymphomas

    Författare :Shi-Mei Zhuang; V. Peter Collins; Linköpings universitet; []
    Nyckelord :MEDICINE; MEDICIN;

    Sammanfattning : Lymphoma is one of the most common malignancies in humans. Its incidence has increased rapidly in the past 30 years. However, the molecular mechanisms underlying the development of lymphomas are largely unknown.Environmental carcinogens play an important role in tumorigenesis. LÄS MER

  5. 14. Unraveling genetic mechanisms in autism spectrum disorders

    Författare :Anna Bremer; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Autism Spectrum Disorders (ASDs) are a group of neurodevelopmental disorders characterized by impairments in socialization and communication accompanied by repetitive and stereotypic behaviors. ASDs are highly heritable and heterogeneous with a complex genetic etiology. LÄS MER

  7. 15. Molecular genetic studies of human thyroid tumors

    Författare :Tony Frisk; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Follicular thyroid tumors; tumor progression; Cowden disease; PTEN; CGH; RET; medullary thyroid carcinoma; MEN 2; anaplastic carcinoma.;

    Sammanfattning : Tumors of the thyroid gland are common among the general population, but only a small proportion is malignant. The vast majority of thyroid tumors are benign, so called follicular adenomas. Sometimes subtypes such as atypical adenomas and adenomas with oxyphil, i.e. LÄS MER