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WeightNameValue
1000 Titel
  • Updating The SynthDNASim tool to create diverse synthetic DNA datasets
1000 Autor/in
  1. Jenster, Caitlin |
  2. Overkleeft, Rick |
  3. Queralt Rosinach, Núria |
1000 Erscheinungsjahr 2024
1000 Publikationstyp
  1. Kongressschrift |
1000 Online veröffentlicht
  • 2024-03
1000 Erschienen in
1000 Übergeordneter Kongress
1000 Lizenz
1000 Verlagsversion
  • https://www.swat4ls.org/workshops/leiden2024/programme/accepted-submissions-swat4hcls-2024/ |
1000 Publikationsstatus
1000 Begutachtungsstatus
1000 Sprache der Publikation
1000 Abstract/Summary
  • In biomedical research, it is common to perform numerous analyses of genomic data, for example, to understand the cause of a particular disease. Regulatory laws protect the privacy of individuals, but hinder access to genomic data. One solution to this is the development of bioinformatics tools to create synthetic DNA data. One of the challenges is to capture genomic diversity representative of differences within and between populations, especially for rare genetic diseases. In this study, we present SynthDNASim, a tool for creating diverse synthetic DNA datasets. Our approach is to create diverse DNA datasets considering factors of genetic evolution and ancestry with Huntington’s disease (HD) as a use case. In particular, with HD variants from European, African, and Middle Eastern populations. We will show our tool and plan on applying semantic methods and tools to make SynthDNASim more FAIR.
1000 Sacherschließung
lokal Huntington's Disease
lokal Synthetic DNA
lokal FAIR
1000 Fächerklassifikation (DDC)
1000 DOI 10.4126/FRL01-006473226 |
1000 Liste der Beteiligten
  1. https://orcid.org/0009-0009-7863-0962|https://orcid.org/0009-0004-3529-1159|https://orcid.org/0000-0003-0169-8159
1000 Label
1000 Förderer
  1. 4MedBox |
  2. Horizon 2020 |
  3. Horizon 2020 |
1000 Fördernummer
  1. -
  2. 825575
  3. 847826
1000 Förderprogramm
  1. -
  2. European Joint Programme on Rare Diseases
  3. Brain Involvement iN Dystrophinopathies
1000 Dateien
  1. Updating The SynthDNASim tool to create diverse synthetic DNA datasets
1000 Förderung
  1. 1000 joinedFunding-child
    1000 Förderer 4MedBox |
    1000 Förderprogramm -
    1000 Fördernummer -
  2. 1000 joinedFunding-child
    1000 Förderer Horizon 2020 |
    1000 Förderprogramm European Joint Programme on Rare Diseases
    1000 Fördernummer 825575
  3. 1000 joinedFunding-child
    1000 Förderer Horizon 2020 |
    1000 Förderprogramm Brain Involvement iN Dystrophinopathies
    1000 Fördernummer 847826
1000 Objektart article
1000 Beschrieben durch
1000 @id frl:6473226.rdf
1000 Erstellt am 2024-02-20T12:26:59.624+0100
1000 Erstellt von 338
1000 beschreibt frl:6473226
1000 Bearbeitet von 339
1000 Zuletzt bearbeitet 2024-03-20T10:33:30.708+0100
1000 Objekt bearb. Wed Mar 20 10:33:09 CET 2024
1000 Vgl. frl:6473226
1000 Oai Id
  1. oai:frl.publisso.de:frl:6473226 |
1000 Sichtbarkeit Metadaten public
1000 Sichtbarkeit Daten public
1000 Gegenstand von

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