Sökning: "CNVs"

Visar resultat 1 - 5 av 25 avhandlingar innehållade ordet CNVs.

  1. 1. Beyond GWAS : Novel Methods and Resources for Genetic Epidemiology

    Författare :Daniel Schmitz; Åsa Johansson; Tuuli Lappalainen; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; GWAS; NGS; long-read sequencing; mendelian randomization; WGS; CNVs;

    Sammanfattning : Since the first human genome assembly’s release, our knowledge of the genetic architecture of complex traits and diseases has grown steadily. Genome-wide association studies (GWAS) played a major role but are limited to common traits and single-nucleotide polymorphisms (SNPs). LÄS MER

  3. 2. Molecular and genetic studies in high-risk neuroblastoma

    Författare :Angela Martinez-Monleon; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Cancer; neural crest; neuroblastoma; heterogeneity; relapse; sequencing; CNVs; SVs; SNVs; LSAMP; CDK4; MDM2;

    Sammanfattning : Neuroblastoma is the most common and deadly cancer in the first year of life. Children with high-risk neuroblastoma have a very poor prognosis, despite heavy multimodal treatment, with less than 50% of 5 years of overall survival. LÄS MER

  4. 3. 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

  5. 4. Genetic studies of neurodevelopmental disorders

    Författare :Josephine Wincent; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Neurodevelopmental disorders (NDDs) constitute a heterogeneous group of disorders that adversely impacts a child’s behavioural and learning processes. Developmental delay (DD) and mental retardation are included among the NDDs and are frequently associated with a wide range of accompanying disabilities such as multiple congenital anomalies and dysmorphic features. LÄS MER

  7. 5. High paternal age and risk of psychiatric disorders in offspring

    Författare :Emma Frans; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Parental ages at childbirth are increasing all over the world and later parenthood might have negative health outcomes for the offspring. During recent year, numerous studies report links between and high paternal age and psychiatric disorders such as schizophrenia and autism. However, the knowledge about this association is limited. LÄS MER