BinDel: Detecting Clinically Relevant Fetal Genomic Microdeletions Using Low‐Coverage Whole‐Genome Sequencing‐Based NIPT
We confirmed BinDel's feasibility for integrating microdeletion analysis into routine NIPT protocol. This work stands as a unique contribution to prenatal microdeletion screening, providing a novel and readily available software tool that was validated with a large set of actual microdeletion samples, positioning it as the first of its kind in the field. BinDel is available at https://github.com/seqinfo/BinDel.
Authors
- Kaarel Krjutškov (ORCID: https://orcid.org/0000-0003-1297-1464)
- Priit Paluoja (ORCID: https://orcid.org/0000-0002-2016-661X)
- Hindrek Teder (ORCID: https://orcid.org/0000-0001-6608-7979)
- Tatjana Jatsenko (ORCID: https://orcid.org/0000-0002-7423-0963)
- Andres Salumets (ORCID: https://orcid.org/0000-0002-1251-8160)
- Priit Palta (ORCID: https://orcid.org/0000-0001-9320-7008)
- Joris Robert Vermeesch (ORCID: https://orcid.org/0000-0002-3071-1191)
Institutions
- Karolinska University Hospital (SE)
- University of Helsinki (FI)
- Karolinska Institutet (SE)
- Institute for Molecular Medicine Finland (FI)
- Competence Centre on Health Technologies (Estonia) (EE)
- University of Tartu (EE)
- KU Leuven (BE)
Publication Details
- Journal
- Prenatal Diagnosis
- Published
- 2025-02-07
- DOI
- https://doi.org/10.1002/pd.6758
- Citations
- 2
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 6.99
Funders
- Eesti Teadusagentuur
- Haridus- ja Teadusministeerium
- Ettevõtluse Arendamise Sihtasutus
- Horizon 2020 Framework Programme