We work where rare-disease genetics meets metabolic biochemistry — mapping how individual variants reshape lipid and energy homeostasis. Wet-lab biology, lipidomics, and the bioinformatic tools we build ourselves all feed the same loop: variant → mechanism → therapy.
Breakpoint-Resolved Assembly of Non-diploid Copy-number Heterogeneity
A somatic-mosaic-aware long-read genome assembler. BRANCH calls and quantifies CNVs via virtual-PCR over the assembly graph, exposing sub-clonal allele fractions traditional callers miss — platform agnostic across long-read sequencing technologies.
The viewer for BRANCH — look at the structural variants BRANCH finds
VariantPaths is the desktop companion to BRANCH. BRANCH finds where a genome differs from the reference; VariantPaths shows what those differences actually look like — animated views of every breakpoint, jumping from reference to alternate, fully annotated. Opens BRANCH output files (.vpf / .vpz) directly. Native, GPU-accelerated, runs on your laptop — no server, no cloud upload of patient data.
A modern AI agent platform for biomedical research
Zyrkel is our flagship AI-agent platform — a standalone product, not a research prototype. We are building an operating system for biomedical cognition: persistent, hosted swarms of specialised agents that read, reason, and decide together at the scale of a whole research program.
Open-source micro-agents that live inside GitHub repos
Separate from Zyrkel: nano-zyrkel is the open-source framework for tiny, repo-resident agents that run on GitHub Actions. No server required — they wake up, do one job, and commit the result. We use them for VUS tracking, dark-genome mapping, and SV reporting.
Note: Zyrkel (zyrkel.com) and nano-zyrkel (nano-zyrkel.com) are different products. Zyrkel is a hosted AI-agent platform; nano-zyrkel is the open-source framework for lightweight repo-resident agents.
Each project moves between patient genome, dish, and animal — and the software that connects them. Computation is not a service we consume; it is a thing we build, ship, and maintain.
We map rare and common variants that disturb lipid handling, brown-fat thermogenesis, and systemic energy balance. From trio-WGS in patients to mechanistic follow-up in cells.
Quantitative mass-spectrometry of lipid species across tissues, diets, and genotypes — connecting individual fatty acids to whole-organism phenotypes.
Primary adipocytes, hepatocytes, CRISPR perturbations, and high-throughput functional screens for variant-effect mapping. The bench work that turns a candidate variant into a mechanism.
We build the software we need ourselves — a haplotype-aware structural-variant assembler, a graph-genome browser, and AI agents for variant triage. All open source.
De novo fatty-acid synthesis doesn't just add saturated lipids to the pool — it actively gates how much polyunsaturated fat from the diet your body actually uses. The result reframes how we think about FAS inhibitors as metabolic drugs, and was a multi-year collaboration linking human genetics, lipidomics and pharmacology.
Worthmann A, Ridder J, Piel SYL, Evangelakos I, Musfeldt M, Voß H, O’Farrell M, Fischer AW, Adak S, Sundd M, Siffeti H, Haumann F, Kloth K, Bierhals T, Heine M, Pertzborn P, Pauly M, Scholz JJ, Kundu S, Fuh MM, Neu A, Tödter K, Hempel M, Knippschild U, Semenkovich CF, Schlüter H, Heeren J, Scheja L, Kubisch C,
Most recent peer-reviewed papers and the lab's current preprints, mixed by date. Browse all 39 on the publications page.
Evangelakos I, Verkade E, Rohde JK, Zaufel A, Vargek M, Heine M, Worthmann A, Graute S, Manka Fuh M, Gunasekaran K, Kumari M, Schwinge D, von Bergen M, Rolle-Kampczyk U, Engelmann B, Breinbauer R, Fuerst R, Saleem U, de Boer JF, , Hansen A, Scheja L, Kuipers F, Moustafa T, Heeren J
Skenteris NT, Luttermann E, Nair S, Evangelakos I, Pujantell M, Eggers M, Hausmann F, Bérouti M, Padoan B, Flomm FJ, Claussen JM, Grünhagel B, Salfelder A, Beifuss B, Biskup S, Blümke P, Rading K, Hildebrandt H, Matschl U, Giesemann-Jansen S, Hennesen J, Nikolaev VO, Kutsche M, Kubisch C, Koch-Nolte F, Tomas NM, Tolosa E, Lütgehetmann M, Stahl FR, Hornung V, Bunders MJ, , Topf M, Kötter I, Altfeld M
Peymani F, Ebihara T, Smirnov D, Kopajtich R, Ando M, Bertini E, Carrozzo R, Diodato D, Distelmaier F, Fang F, Ghezzi D, Hempel M, Iwanicka-Pronicka K, Klopstock T, Stenton SL, Lamperti C, Liu Z, Murtazina A, Okamoto Y, Okazaki Y, Piekutowska-Abramczuk D, Rötig A, Ryzhkova O, , Shagina O, Takashima H, Tsygankova P, Zech M, Meitinger T, Shimura M, Murayama K, Prokisch H
Arndt N, Mair T, Riedner M, Biabani A, Voß H, Schlüter H, Förster L, Knochenhauer T, Sachse M, Beyer M, Leonhardt M, von Kodolitsch Y, , Sauter G, Nauth T, Naito S, Girdauskas E, Reichenspurner H, Detter C, Rosenberger G, Demal TJ
Jaeckstein MY, Fischer AW, Rissiek B, Staehler T, Heine M, Behrens J, Mann O, Pfeifer A, Magnus T, , Worthmann A, Scheja L, Koch-Nolte F, Heeren J
Belios I, Zazara DE, Evangelakos I, Hambach J, Siegl T, Riecken K, Albrecht M, Müller C, Spohn M, Wieczorek A, Rading K, Thiele K, Giannou AD, Zarogiannis SG, Ledée N, Wang W, Gijze S, Nouta J, Manalastas-Cantos K, Graf I, Urbschat C, Tallarek AC, Topf M, Stahl F, Koch-Nolte F, Lütgehetmann M, Wuhrer M, Alawi M, Becker M, Addo MM, Diemert A, , Arck PC
Telge M, Evangelakos I,
Scholz J, Piel S, Evangelakos I, Müller C, Karall D, Reinhart-Steininger B, Steinbrücker K, Stulnig T, Rohde J, Mayr J, Wagner M, Biabani A, Mair T, Müller K, Schlüter H, Weidemann S, Chirico V, Weiler-Normann C, Hagel C, Knisely A, Heeren J, Schoser B, Kubisch C, Hempel M, Prokisch H, Wortmann S, Worthmann A,
Haumann F, Evangelakos I, Worthmann A, Liebold I, Kotschi S, Bischoff A, Neuhofer C, Schweizer M, Heine M, Büchner B, Klopstock T, Prehn C, Dyar K, Prokisch H, Bosurgi L, Heeren J, Bartelt A, Kubisch C,
Grouped by topic. Each dot is a journal; the bigger the dot, the more papers we have published there.
Source: PubMed E-utilities · query Schlein C[Author]
The flagship code bases — every other repo in our org is built on top of one of these.
BRANCH — Breakpoint-Resolved Assembly of Non-diploid Copy-number Heterogeneity. Somatic mosaic-aware long-read genome assembler with vPCR-based CNV quantification.
Standalone genome-graph viewer for structural variant paths. .vpf/.vpz binary formats. Rust + egui.
Autonomous micro-agents that live in GitHub repos and run 24/7 on Actions — no server required.
Zyrkel — Autonomous AI Kernel with persistent memory. The hosted multi-agent platform behind every other tool in this list.
