Sökning: "Next generation sequencing"

Visar resultat 11 - 15 av 180 avhandlingar innehållade orden Next generation sequencing.

1. 11. Exploring genetic diversity in natural and domestic populations through next generation sequencing

   Författare :Nima Rafati; Leif Andersson; Carl-Johan Rubin; Alvaro Martinez Bario; Craig Primmer; Uppsala universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Ecological adaptation; seasonal reproduction; Atlantic herring; domestication; speciation; rabbit; skeletal atavism; Shetland ponies; NGS; SMRT sequencing; genome; transcriptome; assembly; structural variation; genetic diversity; HCE; TSHR; SHOX; CRLF2;

   Sammanfattning : Studying genetic diversity in natural and domestic populations is of major importance in evolutionary biology. The recent advent of next generation sequencing (NGS) technologies has dramatically changed the scope of these studies, enabling researchers to study genetic diversity in a whole-genome context. LÄS MER

3. 12. Data Analysis and Next Generation Sequencing : Applications in Microbiology

   Författare :Nicolas Innocenti; Erik Aurell; Mogens Jensen; KTH; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; RNA-seq; tagRNA-seq; primary and processed RNA; Enterococcus faecalis; Complex transcription; Metagenomics; 5 tagRACE; minimal absent words; compressed sensing; metagenomics; bacterial community reconstruction; Biologisk fysik; Biological Physics;

   Sammanfattning : Next Generation Sequencing (NGS) is a new technology that has revolutionized the way we study living organisms. Where previously only a few genes could be studied at a time through targeted direct probing, NGS offers the possibility to perform measurements for a whole genome at once. LÄS MER

4. 13. Genomic and transcriptomic sequencing in chronic lymphocytic leukemia

   Författare :Diego Cortese; Richard Professor; Carlos López Otín; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; chronic; lymphocytic; leukemia; CLL; genomics; transcriptomics; DNA; RNA; mutations; NGS; whole-exome; sequencing; prognostic; markers; TP53; SF3B1; RPS15; relapse; stereotyped; subsets.;

   Sammanfattning : Identification of recurrent mutations through next-generation sequencing (NGS) has given us a deeper understanding of the molecular mechanisms involved in chronic lymphocytic leukemia (CLL) development and progression and provided novel means for risk assessment in this clinically heterogeneous disease. In paper I, we screened a population-based cohort of CLL patients (n=364) for TP53, NOTCH1, SF3B1, BIRC3 and MYD88 mutations using Sanger sequencing, and confirmed the negative prognostic impact of TP53, SF3B1 or NOTCH1 aberrations, though at lower frequencies compared to previous studies. LÄS MER

5. 14. Ultrasensitive DNA sequencing using liquid biopsies enables precision medicine

   Författare :Gustav Johansson; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Liquid biopsy; cell-free DNA; immune repertoire; next-generation sequencing; unique molecule identifier; GIST; γδ T cell;

   Sammanfattning : Liquid biopsies are minimally invasive and allow repetitive sampling of body fluids. Analysis of cell-free tumor DNA in liquid biopsies can be used as a biomarker for cancer. However, in most clinically relevant liquid biopsies, cell-free DNA is present at low concentrations, contains minute tumor allele frequencies, and is highly fragmented. LÄS MER

7. 15. Application of next generation sequencing in genetic and genomic studies

   Författare :Jingwen Wang; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Genetic variants that spread along the human genome play vital roles in determining our traits, affecting development and potentially causing disorders. Most common disorders have complex underlying mechanisms involving genetic or environmental factors and the interaction between them. LÄS MER