Sökning: "exome sequencing"

Visar resultat 31 - 35 av 73 avhandlingar innehållade orden exome sequencing.

1. 31. Gene and pathway associations in neurodevelopmental disorders

   Författare :Mitra Etemadikhah; Lars Feuk; Kristiina Tammimies; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Gene expression analyses; Neurodevelopmental disorders; Intellectual disability; Schizophrenia;

   Sammanfattning : Neurodevelopmental disorders are complex and heterogenous disorders affecting brain development. In this thesis, we study intellectual disability (ID) and schizophrenia, and we applied genomic, transcriptomic, and proteomic techniques to identify and further investigate candidate variants and important genes and pathways involved in pathology of these two disorders. LÄS MER

3. 32. Genetic studies of congenital upper limb anomalies

   Författare :Tobias Laurell; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : The overall aim of the work reported in this thesis is to improve epidemiological and genetic knowledge of congenital upper limb anomalies (CULA). To accomplish the specific aims of each paper several different methods and approaches have been used such as register studies, array comparative genome hybridization, Sanger sequencing, exome sequencing and functional studies using Lacz enhancer assay, Zebrafish morpholinos and computational transcription factor binding site prediction. LÄS MER

4. 33. Genetic mechanisms for stroke in young adults. A clinical perspective

   Författare :Andreea Ilinca; Lund Neurologi; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

   Sammanfattning : A range of cardiovascular risk factors associated with stroke are known, but they do not explain all cases of stroke. Genetic factors can be responsible for certain forms of stroke, and are further investigated in this thesis. LÄS MER

5. 34. Improved statistical methodology for high-throughput omics data analysis

   Författare :Wenjiang Deng; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Over the last two decades, the advent of high-throughput omics technology has substantially revolutionized biological and biomedical research. A large volume of omics data has been produced with the rapid development of sequencing techniques. LÄS MER

7. 35. Charting genomic heterogeneity in tumours : from bulk to single cell

   Författare :Luuk Harbers; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Tumours do not consist of a single homogeneous population but are complex heterogeneous systems that contain billions of ever-evolving cells with no two tumours being the same. Tumour heterogeneity is present at three levels, 1) inter-patient heterogeneity; 2) intra-patient heterogeneity; and 3) intra-tumour heterogeneity (ITH). LÄS MER