Author

Hansi Weißensteiner

Innsbruck Medical UniversityORCID 0000-0002-2871-8669Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Bioinformatics· 1 Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 5 Research Focus:variant calling· 4 Research Focus:benchmarking· 3 Approach:statistical model· 3 Assay:whole-genome sequencing· 3 Research Focus:differential expression· 2 Assay:DNA methylation· 2 Approach:experimental assay· 2

Frequent Co-Authors

Sebastian SchönherriD· 3 shared Anne GrünewaldiD· 2 shared Antonio SalasiD· 2 shared Christine KleiniD· 2 shared Florian KronenbergiD· 2 shared Joanne TrinhiD· 2 shared Lukas ForeriD· 2 shared Patrick MayiD· 2 shared

Activity by Year

2020-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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3 shared papersGenomics

Sebastian SchönherrORCID

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Author profile →

5 papers

Recent·Most cited

Long-read sequencing enables high-accuracy mitochondrial heteroplasmy detection in Parkinson's disease

Theresa Lüth, Susen Schaake, Christoph Much, Mary Megan Belyea, Philip Seibler, Anne Grünewald, Patrick May, Christine Klein, Hansi Weißensteiner, Joanne Trinh

This study uses long-read sequencing to accurately detect low-frequency mitochondrial heteroplasmy in Parkinson's disease patients and carriers.

medRxiv · Jun 15, 2026 · PreprintGenetic & Genomic Medicine

Nanopore sequencing with unique molecular identifiers enables accurate mutation analysis and haplotyping in the complex Lipoprotein(a) KIV-2 VNTR

Stephan Amstler, Gertraud Streiter, Cathrin Pfurtscheller, Lukas Forer, Silvia Di Maio, Hansi Weißensteiner, Bernhard Paulweber, Sebastian Schönherr, Florian Kronenberg, Stefan Coassin

This paper demonstrates that UMI-ONT-Seq accurately detects SNPs and quantifies VNTR copy numbers in the complex KIV-2 region across multiple ancestries.

Genome Medicine · Oct 8, 2024Peer-reviewedGenomics

Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1- and PRKN-linked Parkinson's disease

Joanne Trinh, Andrew A. Hicks, Inke Regina König, Sylvie Delcambre, Theresa Lüth, Susen Schaake, Kobi Wasner, Jenny Ghelfi, Max Borsche, Carles Vilariño‐Güell, Fayçel Hentati, Elisabeth Luisa Germer, Peter Bauer, Masashi Takanashi, Vladimir Kostić, , Anne Grünewald

The paper identifies mitochondrial DNA heteroplasmy as a marker distinguishing disease manifestation in PINK1/PRKN mutation carriers.

Brain · Dec 7, 2022Peer-reviewedGenetic & Genomic Medicine

Haplocheck: Phylogeny-based Contamination Detection in Mitochondrial and Whole-Genome Sequencing Studies

Hansi Weißensteiner, Lukas Forer, Liane Fendt, Azin Kheirkhah, Antonio Salas, Florian Kronenberg, Sebastian Schönherr

Haplocheck detects contamination in mitochondrial and whole-genome sequencing studies using mitochondrial phylogeny, showing high concordance with nuclear DNA results.

Genome Research · Feb 1, 2021Peer-reviewedBioinformatics

Extraordinary claims require extraordinary evidence in the case of asserted mtDNA biparental inheritance

Antonio Salas, Sebastian Schönherr, Hans‐Jürgen Bandelt, Alberto Gómez‐Carballa, Hansi Weißensteiner

The paper reassesses claims of mtDNA biparental inheritance from Luo et al. (2018) and finds methodological issues and inconsistencies in their findings.

Forensic Science International Genetics · Mar 12, 2020Peer-reviewedGenetics