Sökning: "whole genome amplification"

Visar resultat 11 - 15 av 30 avhandlingar innehållade orden whole genome amplification.

1. 11. Phasing single DNA molecules with barcode linked sequencing

   Författare :David Redin; Afshin Ahmadian; Ulf Gyllensten; KTH; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Single molecule sequencing; DNA barcoding; whole genome haplotyping; linked-read sequencing; phasing; de novo genome assembly.; Biotechnology; Bioteknologi;

   Sammanfattning : Elucidation of our genetic constituents has in the past decade predominately taken the form of short-read DNA sequencing. Revolutionary technology developments have enabled vast amounts of biological information to be obtained, but from a medical standpoint it has yet to live up to the promise of associating individual genotypes to phenotypic states of wide-spread clinical relevance. LÄS MER

3. 12. Parallel target selection by trinucleotide threading

   Författare :Pawel Zajac; Joakim Lundeberg; Afshin Ahmadian; Mats Nilsson; KTH; []
   Nyckelord :TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; trinucleotide threading; multiplex amplification; expression profiling; microarray; generic tag; short tandem repeat; microsatellite; electrophoresis; single nucleotide polymorphism; allelotyping; 454; Pyrosequencing; Genetic engineering including functional genomics; Genteknik inkl. funktionsgenomik;

   Sammanfattning : DNA is the code for all life. Via intermediary RNA the information encoded by the genome is relayed to proteins executing the various functions in a cell. Together, this repertoire of inherently linked biological macromolecules determines all characteristics and features of a cell. LÄS MER

4. 13. Interpreting the human transcriptome

   Författare :Beata Werne Solnestam; Joakim Lundeberg; Piero Carninci; KTH; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Transcriptome; RNA sequencing; high-throughput sequencing; gene expression profiling; multiplex amplification; Bioteknologi; Biotechnology;

   Sammanfattning : The human body is made of billions of cells and nearly all have the same genome. However, there is a high diversity of cells, resulted from what part of the genome the cells use, i.e. which RNA molecules are expressed. LÄS MER

5. 14. Interrogation of Nucleic Acids by Parallel Threading

   Författare :Erik Pettersson; Joakim Lundeberg; Afshin Ahmadian; Ann-Christine Syvänen; KTH; []
   Nyckelord :TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; genotyping; multiplex amplification; trinucleotide threading; single nucleotide polymorphism; genotype calling; Expectation-Maximization; protein-epitope signature tag; expression profiling; Human Protein Atlas; pooled genomic DNA; Pyrosequencing; 454; allelotyping; association studies; bioinformatics; Bioengineering; Bioteknik;

   Sammanfattning : Advancements in the field of biotechnology are expanding the scientific horizon and a promising era is envisioned with personalized medicine for improved health. The amount of genetic data is growing at an ever-escalating pace due to the availability of novel technologies that allow massively parallel sequencing and whole-genome genotyping, that are supported by the advancements in computer science and information technologies. LÄS MER

7. 15. The Neuroblastoma Genome and Epigenome - Patient Stratification and Identification of Candidate Genes

   Författare :Helena Carén; Göteborgs universitet; []
   Nyckelord :cancer; neuroblastoma; epigenetics; DNA methylation; microarray; tumor suppressor gene; tumor; embryonal; neural crest; bisulfite sequencing; 1p36; 11q; MYCN; CASZ1; PIK3CD; PRKCDBP; SCNN1A; TGFBI; DHRS3; KRT19; DUSP23; APITD1; H2AFX;

   Sammanfattning : Neuroblastoma (NB) is a tumor of the sympathetic nervous system, and the most common extracranial tumor of childhood. The prognosis for high-stage NBs is still poor, with survival rates of about 35%. Side-effects of treatment in these young children can also be severe. LÄS MER