Sökning: "long-read sequencing"

Visar resultat 1 - 5 av 20 avhandlingar innehållade orden long-read sequencing.

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

    Författare :Mahwash Jamy; Fabien Burki; Micah Dunthorn; Uppsala universitet; []
    Nyckelord :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;

    Sammanfattning : 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. LÄS MER

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

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

    Sammanfattning : 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. LÄS MER

  5. 4. Bridging the past to the present: investigating species boundaries with herbarium specimens and next-generation-sequencing. A case study of circumpolar Silene sect. Physolychnis

    Författare :Anne-Sophie Quatela; Göteborgs universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; allele phasing; Bayesian inference; herbarium specimen; long read sequencing; multispecies coalescent; Silene; systematics; target capture; species complexes;

    Sammanfattning : During the recent decades, genetic information enclosed in herbarium collections have been partly revealed, largely due to the fast-moving high-throughput sequencing technologies. However, the genetic outcome from herbarium material is limited by its degradation over time, often worsened by certain preservation methods. LÄS MER

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

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

    Sammanfattning : 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). LÄS MER