Search for dissertations about: "SMRT sequencing"

Found 3 swedish dissertations containing the words SMRT sequencing.

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

    Author : Nima Rafati; Leif Andersson; Carl-Johan Rubin; Alvaro Martinez Bario; Craig Primmer; Uppsala universitet; []
    Keywords : 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;

    Abstract : 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. READ MORE

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

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

    Abstract : 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. READ MORE