Nanopore sequencing with unique molecular identifiers enables accurate mutation analysis and haplotyping in the complex lipoprotein(a) KIV-2 VNTR
UMI-ONT-Seq accurately retrieves the SNP haplotype and precisely quantifies the VNTR copy number of each repeat unit of the complex KIV-2 VNTR region across multiple ancestries. This study utilizes the KIV-2 VNTR, presenting a novel and potent tool for comprehensive characterization of medically relevant complex genome regions at scale.
Authors
- Silvia Di Maio (ORCID: https://orcid.org/0009-0000-7612-9466)
- Gertraud Streiter (ORCID: https://orcid.org/0000-0002-4810-2984)
- Bernhard Paulweber (ORCID: https://orcid.org/0000-0002-1609-4676)
- Hansi Weißensteiner (ORCID: https://orcid.org/0000-0002-2871-8669)
- Florian Kronenberg (ORCID: https://orcid.org/0000-0003-2229-1120)
- Stefan Coassin (ORCID: https://orcid.org/0000-0001-5677-8979)
- Stephan Amstler (ORCID: https://orcid.org/0009-0007-7214-7481)
- Lukas Forer
- Sebastian Schönherr
- Cathrin Pfurtscheller
Institutions
- Innsbruck Medical University (AT)
- Universität Innsbruck (AT)
- Paracelsus Medical University (AT)
Publication Details
- Journal
- Genome Medicine
- Published
- 2024-10-08
- DOI
- https://doi.org/10.1186/s13073-024-01391-8
- Citations
- 10
- Primary Topic
- Molecular Biology Techniques and Applications
- Type
- article
- Field-Weighted Citation Impact
- 2.34
Funders
- Austrian Science Fund
- Medizinische Universität Innsbruck
- Universität Innsbruck