The Austrian Society of Human Genetics (ÖGH) has awarded its Science Prize to two researchers from our institute. Silvia Di Maio and Stephan Amstler each received an ÖGH Science Award for their research on the LPA gene.
Silvia’s work (Group Schönherr) introduced a novel computational method that successfully reconstructed the complex KIV-2 region of the LPA gene from exome data and applied it to over 200,000 samples from the UK Biobank.
Stephan’s work (Group Coassin) applied an innovative Nanopore sequencing approach to precisely identify mutation patterns (haplotypes) in the same region. Both researchers also contributed as co-authors to each other’s work, highlighting the interdisciplinary collaboration between the groups.
Congratulations to Silvia and Stephan on their ÖGH Science Awards!
Publications
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Di Maio S, Zöscher P, Weissensteiner H, Forer L, Schachtl-Riess JF, Amstler S, Streiter G, Pfurtscheller C, Paulweber B, Kronenberg F, Coassin S, Schönherr S: Resolving intra-repeat variation in medically relevant VNTRs from short-read sequencing data using the cardiovascular risk gene LPA as a model. Genome Biol. 25:167, 2024. PMID: 38926899
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Amstler S, Streiter G, Pfurtscheller C, Forer L, Di Maio S, Weissensteiner H, Paulweber B, Schönherr S, Kronenberg F, Coassin S: Nanopore sequencing with unique molecular identifiers enables accurate mutation analysis and haplotyping in the complex lipoprotein(a) KIV-2 VNTR. Genome Med. 16:117, 2024. PMID: 39380090