Bioinformatic Approaches to Detecting Copy Number Variation in Next Generation Sequencing Data for Clinical Diagnostics

R. Straver

    Research output: PhD ThesisPhD Thesis - Research VU Amsterdam, graduation VU Amsterdam

    1389 Downloads (Pure)
    Original languageUndefined/Unknown
    QualificationPhD
    Awarding Institution
    • Vrije Universiteit Amsterdam
    Supervisors/Advisors
    • Meijers-Heijboer, E.J., Supervisor, External person
    • Reinders, M.J.T., Supervisor, External person
    • Sistermans, E.A., Co-supervisor, External person
    Award date14 Jun 2018
    Publication statusPublished - 2018

    Keywords

    • Bioinformatics
    • Diagnostics
    • Noninvasive
    • Prenatal
    • Testing
    • Screening
    • NIPT
    • NIPS
    • NIPD
    • Cell free DNA
    • Fetal DNA
    • Fetal fraction
    • cfDNA
    • cffDNA
    • Chromosomal aberration
    • Aneuploidy
    • Trisomy
    • Monosomy
    • Copy number variation
    • CNV
    • FRA10B
    • Fragile sites
    • Nucleosome
    • Next generation sequencing
    • High throughput sequencing
    • Whole exome sequencing
    • Whole genome sequencing
    • Low coverage
    • WISECONDOR
    • WISExome
    • SANEFALCON
    • DEFRAG
    • Within-sample comparison
    • Liquid biopsy

    Cite this