Sökning: "whole-exome"

Visar resultat 11 - 15 av 44 avhandlingar innehållade ordet whole-exome.

  1. 11. Charting the Genetic Landscape and Clonal Architectures of Pheochromocytoma

    Författare :Joakim Crona; Peyman Björklund; Felix Beuschlein; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Sammanfattning : Genotypic and phenotypic inter patient heterogeneity characterize pheochromocytoma and paraganglioma (PPGL). Up to 60% of PPGL are associated with either somatic or germline mutations in at least 14 established disease causing genes. LÄS MER

  3. 12. Multiomics strategy in clinical immunology aiding unsolved antibody deficiencies

    Författare :Hassan Abolhassani; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Clinical and immunological phenotyping of a cohort of consecutive dysgammaglobulinemic patients with unknown genetic defects underwent genomic (e.g. whole-exome sequencing) and other relative multiomics (e.g. LÄS MER

  4. 13. Sequence based identification of genetic variation associated with intellectual disability

    Författare :Jin Zhao; Lars Feuk; Anna Lindstrand; Uppsala universitet; []
    Nyckelord :;

    Sammanfattning : Intellectual disability (ID) is a common neurodevelopmental condition, often caused by genetic defects. De novo variation (DNV) is an important cause of ID, especially in severe or syndromic forms of the disorder. Next generation sequencing has been a successful application for finding pathogenic variation in ID patients. LÄS MER

  5. 14. Genetic Predisposition to Sporadic and Familial Multiple Myeloma

    Författare :Britt-Marie Halvarsson; Avdelningen för hematologi och transfusionsmedicin; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; multiple myeloma; genetics; inherited predisposition; familial multiple myeloma; GWAS; polygenic risk score;

    Sammanfattning : Multiple Myeloma (MM) is the second most common hematological malignancy. It is defined by an uncontrolled growth of plasma cells, usually in the bone marrow. Clinically it is complicated by hypercalcemia, renal failure, anaemia, and bone pain. LÄS MER

  7. 15. Exploring next-generation sequencing in chronic lymphocytic leukemia

    Författare :Viktor Ljungström; Tobias Sjöblom; Richard Rosenquist; Larry Mansouri; Mats Nilsson; Catherine J. Wu; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; CLL; next-generation sequencing; clonal evolution; stereotypy; RPS15; NFKBIE; Medical Genetics; Medicinsk genetik;

    Sammanfattning : Next-generation sequencing (NGS) techniques have led to major breakthroughs in the characterization of the chronic lymphocytic leukemia (CLL) genome with discovery of recurrent mutations of potential prognostic and/or predictive relevance. However, before NGS can be introduced into clinical practice, the precision of the techniques needs to be studied in better detail. LÄS MER