Sökning: "next generation sequencing"

Visar resultat 16 - 20 av 180 avhandlingar innehållade orden next generation sequencing.

1. 16. Extracting Genomic Variations using Selector Technology

   Författare :Magnus Isaksson; Mats Nilsson; Radoje Drmanac; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Selector; Selector probe; Genetic variation; Resequencing; Targeted sequencing; copy-number variations; MLGA; Bioinformatics; Next generation sequencing; NGS; Amplified single molecule; ASM; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Genetics; Genetik; Molekylär medicin; Molecular Medicine;

   Sammanfattning : This thesis describes the development and use of a new class of molecular tools called Selector probes, and its potential for investigations of genetic variation. The Selector technology provides multiplex amplification of targeted DNA sequences with a high specificity, and an enrichment factor in the same order of magnitude as PCR. LÄS MER

3. 17. Facilitating precision medicine through analysis of next-generation sequencing projects

   Författare :Qingyang Xiao; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Precision medicine constitutes an emerging strategy that aims at the individualization of healthcare by considering the personal molecular features and environmental factors of the patient in question. Genetic biomarkers constitute one dimension of a patient’s molecular phenotype that can allow for treatment stratification. LÄS MER

4. 18. 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

5. 19. Prognostic and Predictive Somatic Mutations in Colorectal Cancer

   Författare :Luís Nunes; Tobias Sjöblom; Bengt Glimelius; Snehangshu Kundu; Ivaylo Stoimenov; Laura DeLong Wood; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; colorectal cancer; somatic mutations; next-generation sequencing; whole-genome sequencing; transcriptomics; targeted therapy; prognosis; Medicinsk vetenskap; Medical Science;

   Sammanfattning : Colorectal cancer (CRC) is the third most incident and the second deadliest cancer worldwide. Even though CRC incidence is strongly correlated with age, it has been increasing in developing countries and younger individuals. LÄS MER

7. 20. Impact of Drinking Water Treatment and Pipe Biofilms on Bacterial Dynamics in the Distribution System

   Författare :Kristjan Pullerits; Teknisk mikrobiologi; []
   Nyckelord :TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; Drinking water treatment; Drinking water treatment plant; UV; Slow sand filter; Ultrafiltration; Drinking water distribution system; Biofilm; Biostability; Nitrification; Bacterial communities; Flow cytometry; Next-generation sequencing; 16S rRNA gene amplicon sequencing;

   Sammanfattning : This thesis addresses drinking water quality and microbiology in full-scale drinking water distribution systems (DWDSs). It examines how UV irradiation and slow sand filters (SSFs) alter the water bacteriome, and how the biofilm in the DWDS affects the drinking water quality. LÄS MER