Search for dissertations about: "Ida Höijer"

Found 1 swedish dissertation containing the words Ida Höijer.

  1. 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 : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; 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