Search for dissertations about: "SVs"

Showing result 1 - 5 of 16 swedish dissertations containing the word SVs.

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

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

    Abstract : 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. READ MORE

  4. 2. Genomic variation across European cattle: contribution of gene flow

    Author : Maulik Upadhyay; Sveriges lantbruksuniversitet; Sveriges lantbruksuniversitet; []
    Keywords : LANTBRUKSVETENSKAPER; AGRICULTURAL SCIENCES;

    Abstract : European cattle display vast phenotypic diversity which can be attributed to genomic variation such as single nucleotide polymorphisms (SNPs) and structural variations (SVs).The distribution of these genomic variations in a population is heavily in uenced by different population genomic forces. READ MORE

  5. 3. Characterization of structural chromosomal variants by massively parallel sequencing

    Author : Jesper Eisfeldt; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Chromosomal Structural Variation (SV) such as translocations, inversions, deletions, and duplications are rearrangements of one or several DNA molecules. SVs are widespread across the human genome, and each individual carries thousands of SVs of different types and sizes. READ MORE

  6. 4. Comprehensive analysis of structural genomic alterations in cancer : Computational approaches for identifying cancer driver events

    Author : Babak Alaei-Mahabadi; Göteborgs universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Somatic structural variations; viral integrations; gene fusions; somatic genomic alterations;

    Abstract : The transformation of a normal cell into a cancer cell involves the accumulation of somatic DNA alterations that confer growth and survival advantages. These genomic alterations can be different in terms of pattern and size, comprising single nucleotide variants (SNVs), small insertions or deletions (indels), structural variations (SVs) or foreign DNA insertions such as viral DNA. READ MORE

  7. 5. Structural genomic variation in human disease

    Author : Maria Pettersson; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Structural variants (SVs) are physical changes in the structure of chromosomes and include both unbalanced copy number variants (CNVs) and balanced events (translocations, inversions and insertions). Many SVs constitute benign background variation and are found frequently in healthy individuals. READ MORE