Sökning: "whole-exome"

Visar resultat 21 - 25 av 44 avhandlingar innehållade ordet whole-exome.

  1. 21. New Insights in Genetic and Epigenetic Mechanisms Involved in Parathyroid Tumorigenesis

    Författare :Lee Starker; Peyman Björklund; Barbra Miller; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Parathyroid; yumorigenesis; mutation; exome sequencing;

    Sammanfattning : Primary hyperparathyroidism (pHPT) is a pathology associated with one or multiple hyperfunctioning parathyroid glands.  The disease prevalence occurs in roughly 1-2% of the population primarily post-menopausal women.  The molecular pathology of the disease is poorly understood. LÄS MER

  3. 22. Next generation sequencing to find genetic risk factors in familial cancer

    Författare :Jessada Thutkawkorapin; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : In 2015, Cancer is the second leading cause of death worldwide. Genetic predisposition in familial cancer cases is largely unexplained. At the same time, rapid development in sequencing technology results in an unprecedented increase in the amount of whole exome- and whole genome sequencing data. LÄS MER

  4. 23. Past demography and local adaptation in forest trees : Insights from natural populations and breeding programs of Norway spruce

    Författare :Lili Li; Martin Lascoux; Brunno Fady; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; clines; demographic history; local adaptation; Picea abies; Picea obovata; population genetic structure; Swedish breeding program; Biology with specialization in Evolutionary Genetics; Biologi med inriktning mot evolutionär genetik;

    Sammanfattning : Spatial changes in natural selection patterns can give rise to local adaptation and genetic differentiation between populations. Local adaptation for phenological traits is pronounced in many forest tree species. LÄS MER

  5. 24. Underlying genetic mechanisms of hereditary dystrophies in retina and cornea

    Författare :Jonsson Frida; Irina Golovleva; Carlo Rivolta; Umeå universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Cornea; retina; gene; mutation detection; inherited diseases; genetik; Genetics;

    Sammanfattning : Inherited retinal and corneal dystrophies represent a group of disorders with great genetic heterogeneity. Over 250 genes are associated with retinal diseases and 16 genes are causative of corneal dystrophies. LÄS MER

  7. 25. Genetics of diffuse large B-cell lymphoma

    Författare :Konstantinos Georgiou; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Diffuse large B-cell lymphoma (DLBCL) is one the most common forms of non-Hodgkin lymphoma and one of the most aggressive B-cell neoplasms. Although most patients respond to current standard treatments, a significant number of them relapse and become refractory to treatment. Hence, there is a need for new approaches in the management of DLBCL. LÄS MER