Sökning: "targeted enrichment"

Visar resultat 1 - 5 av 46 avhandlingar innehållade orden targeted enrichment.

1. 1. Targeted Long-read Sequencing : Development and Applications in Medical Genetics

   Författare :Ida Höijer; Ulf B. Gyllensten; Adam Ameur; Lars Feuk; Winston Timp; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; long-read sequencing; targeted sequencing; targeted enrichment; CRISPR-Cas9; off-targets; medical genetics; repeat expansion; structural variant;

   Sammanfattning : Targeted sequencing has the advantage of providing pinpointed DNA information, while costs and data-analysis efforts are reduced. If targeted sequencing is combined with single molecule long-read sequencing, it can become a powerful tool to investigate genomic regions traditionally difficult using the predominantly used short-read sequencing platforms, including repetitive regions and large structural variants. LÄS MER

3. 2. Single Molecule Detection : Microfluidic Automation and Digital Quantification

   Författare :Malte Kühnemund; Mats Nilsson; Ulf Landegren; Sten Linnarsson; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; single molecule; digital; rolling circle amplification; magnetic particle; padlock probe; microfluidics; resistive pulse sensing; lab on chip; mobile phone microscopy; enrichment; sequencing;

   Sammanfattning : Much of recent progress in medical research and diagnostics has been enabled through the advances in molecular analysis technologies, which now permit the detection and analysis of single molecules with high sensitivity and specificity. Assay sensitivity is fundamentally limited by the efficiency of the detection method used for read-out. LÄS MER

4. 3. Targeted proteomics methods for protein quantification of human cells, tissues and blood

   Författare :Fredrik Edfors; Mathias Uhlén; Albert Heck; KTH; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; proteomics; mass spectrometry; protein quantification; stable isotope standard; parallel reaction monitoring; immuno-enrichment; Bioteknologi; Biotechnology;

   Sammanfattning : The common concept in this thesis was to adapt and develop quantitative mass spectrometric assays focusing on reagents originating from the Human Protein Atlas project to quantify proteins in human cell lines, tissues and blood. The work is based around stable isotope labeled protein fragment standards that each represent a small part of a human protein-coding gene. LÄS MER

5. 4. 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

7. 5. From Tissue to Mutations : Genetic Profiling of Colorectal Cancer

   Författare :Lucy Mathot; Tobias Sjöblom; Mats Nilsson; Alberto Bardelli; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Nucleic acid extraction; genotyping; targeted sequencing; mutation analysis; colorectal cancer; metastatic disease; Medical Science; Medicinsk vetenskap;

   Sammanfattning : Comprehensive characterisation of the mutational landscapes of solid tumours is a multistep process involving the collection of suitable samples, the extraction of nucleic acids and the preparation of these materials for mutational analyses. In this thesis, I aimed to develop a streamlined process for the analysis of colorectal cancer (CRC) patient samples in order to identify novel mutations that hallmark the development of advanced disease. LÄS MER