Sökning: "NPL score"

Visar resultat 1 - 5 av 8 avhandlingar innehållade orden NPL score.

  1. 1. Pointwise and Genomewide Significance Calculations in Gene Mapping through Nonparametric Linkage Analysis: Theory, Algorithms and Applications

    Författare :Lars Ängquist; Matematisk statistik; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; programming; actuarial mathematics; Statistik; cytogenetics; Genetik; cytogenetik; Mathematics; Matematik; Statistics; operations research; Genetics; ROC curves; conditioning loci; optimal score functions; noncentrality parameter; cost adjusted relative efficiency; exponential tilting; importance sampling; Monte Carlo simulation; normal approximation; crossover rate; process maximum; analytical approximation; significance calculations; NPL score; conditional linkage analysis; two-locus linkage analysis; Allele sharing; aktuariematematik; operationsanalys; programmering; gene-gene interaction; composite hypotheses; genetic disease models; classes of score functions; nonparametric linkage analysis;

    Sammanfattning : In linkage analysis or, in a wider sense, gene mapping one searches for disease loci along a genome. This is done by observing so called marker genotypes (alleles) and phenotypes (affecteds/unaffecteds) of a pedigree set, i.e. LÄS MER

  3. 2. On Power Estimation and Score Predictions in Affected Sib-Pair Linkage Analysis

    Författare :Mikael Knutsson; Göteborgs universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; affected sib-pair; linkage analysis; nonparametric linkage score; sib prevalence; statistical genetics; nonparametric linkage score;

    Sammanfattning : This thesis consists of three papers in statistical genetics, with the emphasis on affected sib-pair linkage analysis. In Paper A, a method to derive the power of linkage analysis in genome scans, using a stepwise approach, is presented. LÄS MER

  4. 3. Gene mapping of atopic dermatitis

    Författare :Cilla Söderhäll; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Atopic dermatitis is a hereditary, pruritic, inflammatory and chronic skin disease that typically presents in early childhood. It is often associated with other atopic manifestations, such as asthma, allergic rhinoconjunctivitis, and elevated total and/or allergen-specific serum lgE levels. LÄS MER

  5. 4. Hypospadias : gene mapping and candidate gene studied

    Författare :Thi Thai Hanh Trinh; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Hypospadias is a common congenital malformation in boys, characterized by incomplete fusion of the urethral folds, abnormal opening of urethra and different degrees of curvature of the penis. In Sweden, the incidence of hypospadias is 1.14 per 300 male live-births according to the annual Swedish Malformation Registry. LÄS MER

  7. 5. Genetic and epidemiological studies of dystocia : difficult labour

    Författare :Michael Algovik; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Dystocia; epidemiology; genetics; labour; obstetric complications; parturition; susceptibility; uterus;

    Sammanfattning : Objective: To explore the epidemiological characteristics, the influence on reproductive health and the genetic basis of dystocia prolonged and difficult labour. Material and methods: The thesis has a retrospective design and is mainly based on a material from an entire cohort of women, extracted from the Swedish Medical Birth Register, who had their first delivery during the years 1973 to 1997. LÄS MER