Sökning: "variants"

Visar resultat 1 - 5 av 1359 avhandlingar innehållade ordet variants.

  1. 1. Dissecting the Genetic Basis of Systemic Lupus Erythematosus : The Pursuit of Functional Variants

    Författare :Angélica María Delgado Vega; Ulf Gyllensten; Marta E. Alarcon-Riquelme; Jane Worthington; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Systemic Lupus Erythematosus; SLE; Genetic Mapping; Association Studies; Functional Variants; TNFSF4; STAT4; IRF5; CD226; BLK; BANK1; Systemisk Lupus Erythematosus; SLE; Genetik; Genetisk Association; Funktionella Varianter; TNFSF4; STAT4; IRF5; CD226; BLK; BANK1; Lupus Eritematoso Sistémico; LES; Estudios de Asociación Genética; Variantes Funcionales; TNFSF4; STAT4; IRF5; CD226; BLK; BANK1; Medical Genetics; Medicinsk genetik; Medical Science; Medicinsk vetenskap;

    Sammanfattning : Systemic lupus erythematosus (SLE) is a chronic and systemic autoimmune disease that primarily affects women during the childbearing years. SLE is characterized by the production of autoantibodies against nucleic acids and their interacting proteins. LÄS MER

  3. 2. Morphological variants in neurodevelopmental disorders

    Författare :Lynnea Myers; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are diagnosed in a significant minority of children, adolescents, and adults worldwide. Physical examinations are recommended for children undergoing assessment of NDDs, including evaluation of the presence of morphological variants, which are altered physical features of the body such as low-set ears, curved finger digits, narrow lips, etc. LÄS MER

  4. 3. Tools and pipelines for interpreting the impacts of genetic variants

    Författare :Abhishek Niroula; Proteinbioinformatik; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Bioinformatics; Genetic variants; Machine Learning; cancer genomics; Variation interpretation;

    Sammanfattning : Next generation sequencing (NGS) methods have been widely used for diagnosis. As time and cost of sequencing has reduced sharply during the last decade, genome and exome-wide sequencing have increasingly been used. LÄS MER

  5. 4. Genetic predisposition for Multiple Myeloma. Identification and functional characterization of risk variants

    Författare :Laura Duran Lozano; Avdelningen för hematologi och transfusionsmedicin; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; GWAS; multiple myeloma; CRISPR Cas9; cancer genetics; functional characterization; Germline variants;

    Sammanfattning : Multiple myeloma (MM) is a blood malignancy originating from plasma cells. First-degree relatives of patients with MM have two- to four-fold higher risk of MM. However, the molecular basis remains largely unknown. This Ph. LÄS MER

  7. 5. Genetic Risk Factors for Systemic Lupus Erythematosus : From Candidate Genes to Functional Variants

    Författare :Anna-Karin Abelson; Marta Alarcón-Riquelme; Holger Luthman; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Systemic Lupus Erythematosus; SLE; association study; complex disease; genetic; Medical genetics; Medicinsk genetik;

    Sammanfattning : The aim of this thesis has been to identify genetic variants that increase the susceptibility for Systemic Lupus Erythematosus (SLE), an autoimmune disease caused by a complex interplay between various genetic and environmental factors. Five different candidate genes were selected through different strategies, and were analysed for association with SLE in an attempt to distinguish some of the underlying mechanisms of this disease. LÄS MER