Search for dissertations about: "long read"

Showing result 1 - 5 of 71 swedish dissertations containing the words long read.

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

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

   Abstract : 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. READ MORE

4. 2. Environmental sequencing to infer patterns of eukaryotic evolution : Combining long-read and short-read metabarcoding

   Author : Mahwash Jamy; Fabien Burki; Micah Dunthorn; Uppsala universitet; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; Protists; eukaryotes; environmental sequencing; ribosomal DNA; PacBio; long-read metabarcoding; phylogenetics; salt barrier; habitat evolution; eukaryotes evolution; evolutionary rate; Apicomplexa; pathogen; Biology with specialization in Systematics; Biologi med inriktning mot systematik;

   Abstract : Our view of eukaryotes is biased towards plants, animals, and fungi. But the vast majority of eukaryotic diversity is microbial in nature. These microbial eukaryotes are key players in all ecosystems on earth and are collectively known as protists. READ MORE

5. 3. Genomic adaptation and gene-dosage regulation of Drosophila melanogaster cells, and long-read software developments

   Author : Jacob Lewerentz; Per Stenberg; Jan Larsson; Bergman Casey; Umeå universitet; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Drosophila; cell line; long read; Nanopore; Pacbio; Illumina; cancer; genome evolution; dosage compensation; structural variant; software; bioinformatics;

   Abstract : Cells are the vehicles that allows genetic code to proliferate in the world, taking on various forms – as illustrated by the tree of life. The cell features are determined by the manufacturing of proteins, a process that has its blueprints encoded as genes in the genome. READ MORE

6. 4. The very long-term course of severe depression, with focus on suicidality

   Author : Lisa Crona; Lund Psykiatri; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; life-chart; qualitative; suicide attempt; psychotic depression; long-term melancholia; depression;

   Abstract : Abstract Objective: To study the very long-term course of severe depression and the subjects own experiences many years after a suicide attempt. Method: Patients diagnosed with severe depression/melancholia between 1956 and 1969 were interviewed 37- 53 years after index admission. READ MORE

7. 5. Beyond GWAS : Novel Methods and Resources for Genetic Epidemiology

   Author : Daniel Schmitz; Åsa Johansson; Tuuli Lappalainen; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; GWAS; NGS; long-read sequencing; mendelian randomization; WGS; CNVs;

   Abstract : Since the first human genome assembly’s release, our knowledge of the genetic architecture of complex traits and diseases has grown steadily. Genome-wide association studies (GWAS) played a major role but are limited to common traits and single-nucleotide polymorphisms (SNPs). READ MORE