Author

Cathrin Pfurtscheller

Innsbruck Medical University

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genomics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Assay:long-read sequencing· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Bernhard PaulweberiD· 1 shared Florian KronenbergiD· 1 shared Gertraud StreiteriD· 1 shared Hansi WeißensteineriD· 1 shared Lukas ForeriD· 1 shared Sebastian SchönherriD· 1 shared Silvia Di MaioiD· 1 shared Stefan CoassiniD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

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9 top collaborators · 36 mutual co-author links

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1 shared paperGenomics

Bernhard PaulweberORCID

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1 paper

Recent·Most cited

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