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Moderne Sequenzierungsmethoden: Neue Möglichkeiten für die Gefäßmedizin – auch bei kleiner Probenzahl?

Modern sequencing methods: new possibilities for vascular medicine even with small sample sizes?

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Zusammenfassung

In der modernen Gefäßchirurgie ergibt sich durch die Verfügbarkeit auch die Notwendigkeit, das perioperativ gewonnene Patientenmaterial (Gewebe, Blut) wissenschaftlich zu untersuchen. Dabei wird der Fokus in der Forschung immer mehr auf Sequenzierungen gelegt. Neben den klassischen Genom- (GWAS, WES) und Bulk-RNA-Sequenzierungen, die oft große und homogene Kohorten verlangen, erhalten auch immer mehr neue, komplexere „Einzel-Zell“-Sequenzierungsmethoden Einzug in die gefäßmedizinische Grundlagenforschung. Diese kommen oft mit kleineren Kohortengrößen aus, da nicht mehr ein Datensatz pro Gewebe, sondern ein Datensatz pro Zelle erstellt wird. Auch epigenetische Sequenzierungen und die Analyse hereditärer Merkmale mittels DNA-Sequenzierung werden immer häufiger und regelmäßiger in der Gefäßchirurgie durchgeführt. Bei Projekten mit geplanten Sequenzierungen ist die enge Kommunikation und Zusammenarbeit zwischen Patienten-versorgenden Ärzten, Biobanken und Wissenschaftlern wichtig. Für die Analyse der Daten ist bioinformatische/mathematische Unterstützung notwendig. Zusammen mit dem Phänotyp des Patienten lässt sich so ein ganzheitlicheres Bild der vaskulären Erkrankungen darstellen.

Abstract

In modern vascular surgery the availability of perioperatively obtained patient material (tissue, blood) makes basic research almost a must. Research is increasingly focusing on results from different sequencing techniques. In addition to the classical genome (genome-wide association studies, GWAS and whole exome sequencing, WES) and bulk RNA sequencing, which often require large and homogeneous cohorts, more and more new, more complex single cell sequencing methods are finding their way into basic research in vascular medicine. In particular, with these new methods smaller cohort sizes are often sufficient as one dataset per cell is created instead of just one dataset per tissue. Epigenetic sequencing and the analysis of hereditary characteristics using DNA sequencing are also performed more and more frequently in vascular surgery. In projects with sequencing involved, close communication and cooperation between physicians, biobanks and scientists is extremely important. Support from bioinformatics and mathematics is required for analysis of the data. Together with the patient’s phenotype a more holistic picture of vascular diseases can be presented.

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Authors and Affiliations

  1. Klinik und Poliklinik für Vaskuläre und Endovaskuläre Chirurgie, Klinikum rechts der Isar, Vaskuläre Biologie, Technische Universität München, Biedersteiner Str. 29, 80802, München, Deutschland

    Jessica Pauli

  2. Klinik und Poliklinik für Viszeral‑, Thorax- und Gefäßchirurgie (VTG), Bereich Gefäßchirurgie, Medizinische Fakultät Carl Gustav Carus und Universitätsklinikum, Technische Universität Dresden, Dresden, Deutschland

    Anja Hofmann, Steffen Wolk, Christian Reeps & Albert Busch

  3. Klinik und Poliklinik für Vaskuläre und Endovaskuläre Chirurgie, Klinikum rechts der Isar, Technische Universität München, München, Deutschland

    Nadja Sachs, Valentina Paloschi, Lars Maegdefessel & Albert Busch

  4. Abteilung Bioinformatik, Labor Dr. Wisplinghoff GbR, Köln, Deutschland

    Claus Jürgen Scholz

  5. Klinik für Gefäßchirurgie und Endovaskuläre Chirurgie, Universitätsklinikum Heidelberg, Heidelberg, Deutschland

    Philipp Erhart

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  1. Jessica Pauli
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Correspondence to Jessica Pauli.

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Interessenkonflikt

J. Pauli, A. Hofmann, N. Sachs, S. Wolk, V. Paloschi, L. Maegdefessel, C. Reeps, C.J. Scholz, P. Erhart und A. Busch geben an, dass kein Interessenkonflikt besteht.

Für diesen Beitrag wurden von den Autoren keine Studien an Menschen oder Tieren durchgeführt. Für die aufgeführten Studien gelten die jeweils dort angegebenen ethischen Richtlinien.

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Pauli, J., Hofmann, A., Sachs, N. et al. Moderne Sequenzierungsmethoden: Neue Möglichkeiten für die Gefäßmedizin – auch bei kleiner Probenzahl?. Gefässchirurgie 27, 261–267 (2022). https://doi.org/10.1007/s00772-022-00908-y

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