Article

circVDJ-seq for T cell clonotype detection in single-cell and spatial multi-omics.
Plumbom, Izabela ORCID: https://orcid.org/0009-0006-3720-3700, Obermayer, Benedikt ORCID: https://orcid.org/0000-0002-9116-630X, Raspe, Raphael, Pascual-Reguant, Anna, Theurillat, Ilan ORCID: https://orcid.org/0000-0002-1125-1951, Pentimalli, Tancredi Massimo ORCID: https://orcid.org/0000-0002-8461-7918, Hsieh, Yu-Hsin ORCID: https://orcid.org/0000-0003-3037-8728, Gil, Marine ORCID: https://orcid.org/0000-0002-3885-7806, Dietrich, Carola, Seeger-Zografakis, Michaela, Quedenau, Claudia ORCID: https://orcid.org/0000-0002-6846-4915, Wilde, Jeannine, Braeuning, Caroline ORCID: https://orcid.org/0009-0007-1439-9920, Fischer, Cornelius ORCID: https://orcid.org/0000-0003-0329-2435, Schuelke, Markus ORCID: https://orcid.org/0000-0003-2824-3891, Seitz, Volkhard, Ludwig, Leif S. ORCID: https://orcid.org/0000-0002-2916-2164, Eggert, Angelika, Rajewsky, Nikolaus ORCID: https://orcid.org/0000-0002-4785-4332, Borodina, Tatiana ORCID: https://orcid.org/0000-0002-6978-016X, Beule, Dieter ORCID: https://orcid.org/0000-0002-3284-0632, Altmueller, Janine ORCID: https://orcid.org/0000-0003-4372-1521, Radbruch, Helena ORCID: https://orcid.org/0000-0001-6941-3397, Hauser, Anja Erika and Conrad, Thomas ORCID: https://orcid.org/0000-0001-5618-6295
Genome Medicine 18 (1): 84. 11 June 2026

DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects.
Dombrowsky, Gregor ORCID: https://orcid.org/0000-0003-2591-2682, van der Laan, Liselot ORCID: https://orcid.org/0000-0002-7800-8665, Silva, Ananília ORCID: https://orcid.org/0000-0002-4730-9676, Breckpot, Jeroen ORCID: https://orcid.org/0000-0002-0734-5154, Audain, Enrique ORCID: https://orcid.org/0000-0002-9201-7840, Wilsdon, Anna, Levy, Michael A., Vos, Niels ORCID: https://orcid.org/0000-0001-6001-3426, Mannens, Marcel ORCID: https://orcid.org/0000-0001-7137-119X, Wang, Jiao, Jain, Anjali, Lesurf, Robert ORCID: https://orcid.org/0000-0001-7095-1491, Winlaw, David ORCID: https://orcid.org/0000-0001-8005-3361, Bezzina, Connie R. ORCID: https://orcid.org/0000-0002-0633-3514, Thomas, Mary Ann ORCID: https://orcid.org/0009-0006-8855-7445, Caliebe, Almuth ORCID: https://orcid.org/0000-0003-2157-425X, Klaassen, Sabine ORCID: https://orcid.org/0000-0001-5925-9912, Berger, Felix ORCID: https://orcid.org/0000-0001-7881-1557, Dittrich, Sven ORCID: https://orcid.org/0000-0002-8455-3416, Stiller, Brigitte ORCID: https://orcid.org/0000-0002-7657-4647, Abdul-Khaliq, Hashim, Dähnert, Ingo, Bu'Lock, Frances, Loughna, Siobhan ORCID: https://orcid.org/0000-0002-3277-1438, Brook, J. David ORCID: https://orcid.org/0000-0002-5946-6740, Mital, Seema ORCID: https://orcid.org/0000-0002-7643-4484, Russell, Robert B. ORCID: https://orcid.org/0000-0002-1905-4717, Pickardt, Thomas, Bauer, Ulrike, Kramer, Hans-Heiner, Uebing, Anselm ORCID: https://orcid.org/0000-0001-8504-0228, Henneman, Peter ORCID: https://orcid.org/0000-0003-2179-7808, Sadikovic, Bekim ORCID: https://orcid.org/0000-0001-6363-0016, Postma, Alex ORCID: https://orcid.org/0000-0003-4874-2487 and Hitz, Marc-Phillip ORCID: https://orcid.org/0000-0001-9894-6897
Genome Medicine 18 (1): 2. 7 January 2026

Smoking-associated gene expression alterations in nasal epithelium reveal immune impairment linked to lung cancer risk.
de Biase, M.S. ORCID: https://orcid.org/0000-0003-0383-5161, Massip, F. ORCID: https://orcid.org/0000-0001-5855-0935, Wei, T.T. ORCID: https://orcid.org/0000-0001-5719-721X, Giorgi, F.M. ORCID: https://orcid.org/0000-0002-7325-9908, Stark, R., Stone, A., Gladwell, A., O'Reilly, M., Schütte, D., de Santiago, I., Meyer, K.B. ORCID: https://orcid.org/0000-0001-5906-1498, Markowetz, F., Ponder, B.A.J., Rintoul, R.C. ORCID: https://orcid.org/0000-0003-3875-3780 and Schwarz, R.F. ORCID: https://orcid.org/0000-0001-9155-4268
Genome Medicine 16 (1): 54. 8 April 2024

Cancer origin tracing and timing in two high-risk prostate cancers using multisample whole genome analysis: prospects for personalized medicine.
Nurminen, A., Jaatinen, S., Taavitsainen, S., Högnäs, G., Lesluyes, T., Ansari-Pour, N., Tolonen, T., Haase, K. ORCID: https://orcid.org/0000-0002-0944-5618, Koskenalho, A., Kankainen, M., Jasu, J., Rauhala, H., Kesäniemi, J., Nikupaavola, T., Kujala, P., Rinta-Kiikka, I., Riikonen, J., Kaipia, A., Murtola, T., Tammela, T.L., Visakorpi, T., Nykter, M., Wedge, D.C., Van Loo, P. and Bova, G.S. ORCID: https://orcid.org/0000-0003-1639-3104
Genome Medicine 15 (1): 82. 12 October 2023

Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions.
Tschernoster, N. ORCID: https://orcid.org/0000-0002-6058-9342, Erger, F., Kohl, S., Reusch, B., Wenzel, A., Walsh, S., Thiele, H., Becker, C., Franitza, M., Bartram, M.P., Kömhoff, M., Schumacher, L., Kukat, C., Borodina, T. ORCID: https://orcid.org/0000-0002-6978-016X, Quedenau, C. ORCID: https://orcid.org/0000-0002-6846-4915, Nürnberg, P., Rinschen, M.M., Driller, J.H., Pedersen, B.P., Schlingmann, K.P., Hüttel, B., Bockenhauer, D., Beck, B. and Altmüller, J. ORCID: https://orcid.org/0000-0003-4372-1521
Genome Medicine 15 (1): 62. 23 August 2023

A proteomics analysis of 5xFAD mouse brain regions reveals the lysosome-associated protein Arl8b as a candidate biomarker for Alzheimer's disease.
Boeddrich, A. ORCID: https://orcid.org/0000-0001-9118-050X, Haenig, C. ORCID: https://orcid.org/0000-0003-1973-7646, Neuendorf, N., Blanc, E. ORCID: https://orcid.org/0000-0002-4369-0254, Ivanov, A. ORCID: https://orcid.org/0000-0002-4824-1925, Kirchner, M. ORCID: https://orcid.org/0000-0002-7049-534X, Schleumann, P., Bayraktaroğlu, I., Richter, M. ORCID: https://orcid.org/0000-0002-5339-0781, Molenda, C.M. ORCID: https://orcid.org/0000-0003-0771-405X, Sporbert, A. ORCID: https://orcid.org/0000-0002-3738-1295, Zenkner, M., Schnoegl, S., Suenkel, C. ORCID: https://orcid.org/0000-0002-5326-6043, Schneider, L.S., Rybak-Wolf, A. ORCID: https://orcid.org/0000-0002-1192-5290, Kochnowsky, B., Byrne, L.M., Wild, E.J., Nielsen, J.E., Dittmar, G. ORCID: https://orcid.org/0000-0003-3647-8623, Peters, O. ORCID: https://orcid.org/0000-0003-0568-2998, Beule, D. ORCID: https://orcid.org/0000-0002-3284-0632 and Wanker, E.E. ORCID: https://orcid.org/0000-0001-8072-1630
Genome Medicine 15 (1): 50. 20 July 2023

The gut microbiota in multiple sclerosis varies with disease activity.
Thirion, F., Sellebjerg, F., Fan, Y., Lyu, L., Hansen, T.H., Pons, N., Levenez, F., Quinquis, B., Stankevic, E., Søndergaard, H.B., Dantoft, T.M., Poulsen, C.S., Forslund, S.K. ORCID: https://orcid.org/0000-0003-4285-6993, Vestergaard, H., Hansen, T., Brix, S., Oturai, A., Sørensen, P.S., Ehrlich, S.D. and Pedersen, O. ORCID: https://orcid.org/0000-0002-3321-3972
Genome Medicine 15 (1): 1. 5 January 2023

Single-cell transcriptomics reveals common epithelial response patterns in human acute kidney injury.
Hinze, C. ORCID: https://orcid.org/0000-0003-2526-1621, Kocks, C. ORCID: https://orcid.org/0000-0003-1749-3334, Leiz, J. ORCID: https://orcid.org/0000-0002-6531-7047, Karaiskos, N. ORCID: https://orcid.org/0000-0001-7771-3947, Boltengagen, A. ORCID: https://orcid.org/0000-0002-8356-9766, Cao, S. ORCID: https://orcid.org/0000-0001-7195-8193, Skopnik, C.M. ORCID: https://orcid.org/0000-0002-6089-4769, Klocke, J. ORCID: https://orcid.org/0000-0002-7723-9234, Hardenberg, J.H. ORCID: https://orcid.org/0000-0001-9548-2118, Stockmann, H. ORCID: https://orcid.org/0000-0002-0934-7620, Gotthardt, I. ORCID: https://orcid.org/0000-0001-6033-0093, Obermayer, B. ORCID: https://orcid.org/0000-0002-9116-630X, Haghverdi, L. ORCID: https://orcid.org/0000-0001-9280-9170, Wyler, E. ORCID: https://orcid.org/0000-0002-9884-1806, Landthaler, M. ORCID: https://orcid.org/0000-0002-1075-8734, Bachmann, S., Hocke, A.C. ORCID: https://orcid.org/0000-0002-6935-8612, Corman, V., Busch, J., Schneider, W., Himmerkus, N. ORCID: https://orcid.org/0000-0002-2910-6728, Bleich, M. ORCID: https://orcid.org/0000-0002-1745-2295, Eckardt, K.U. ORCID: https://orcid.org/0000-0003-3823-0920, Enghard, P. ORCID: https://orcid.org/0000-0002-7254-3931, Rajewsky, N. ORCID: https://orcid.org/0000-0002-4785-4332 and Schmidt-Ott, K.M. ORCID: https://orcid.org/0000-0002-7700-7142
Genome Medicine 14 (1): 103. 9 September 2022

Prediction of combination therapies based on topological modeling of the immune signaling network in multiple sclerosis.
Bernardo-Faura, M., Rinas, M., Wirbel, J., Pertsovskaya, I., Pliaka, V., Messinis, D.E., Vila, G., Sakellaropoulos, T., Faigle, W., Stridh, P., Behrens, J.R., Olsson, T., Martin, R., Paul, F. ORCID: https://orcid.org/0000-0002-6378-0070, Alexopoulos, L.G., Villoslada, P. and Saez-Rodriguez, J. ORCID: https://orcid.org/0000-0002-8552-8976
Genome Medicine 13 (1): 117. 16 July 2021

Disease severity-specific neutrophil signatures in blood transcriptomes stratify COVID-19 patients.
Aschenbrenner, A.C., Mouktaroudi, M., Krämer, B., Oestreich, M., Antonakos, N., Nuesch-Germano, M., Gkizeli, K., Bonaguro, L., Reusch, N., Baßler, K., Saridaki, M., Knoll, R., Pecht, T., Kapellos, T.S., Doulou, S., Kröger, C., Herbert, M., Holsten, L., Horne, A. ORCID: https://orcid.org/0000-0002-4209-4573, Gemünd, I.D., Rovina, N., Agrawal, S., Dahm, K., van Uelft, M., Drews, A., Lenkeit, L., Bruse, N., Gerretsen, J., Gierlich, J., Becker, M., Händler, K., Kraut, M., Theis, H., Mengiste, S., Domenico, E., Schulte-Schrepping, J., Seep, L., Raabe, J., Hoffmeister, C., ToVinh, M., Keitel, V., Rieke, G., Talevi, V., Skowasch, D., Aziz, N.A., Pickkers, P., van de Veerdonk, F.L., Netea, M.G., Schultze, J.L., Kox, M., Breteler, M.M.B., Nattermann, J., Koutsoukou, A., Giamarellos-Bourboulis, E.J. and Ulas, T. ORCID: https://orcid.org/0000-0002-9785-4197
Genome Medicine 13 (1): 7. 13 January 2021

Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease.
Izarzugaza, J.M.G., Ellesøe, S.G., Doganli, C., Ehlers, N.S., Dalgaard, M.D., Audain, E., Dombrowsky, G., Banasik, K., Sifrim, A., Wilsdon, A., Thienpont, B., Breckpot, J., Gewillig, M., Brook, J.D., Hitz, M.P., Larsen, L.A. ORCID: https://orcid.org/0000-0002-7536-1172 and Brunak, S.
Genome Medicine 12 (1): 76. 28 August 2020

cfNOMe - a single assay for comprehensive epigenetic analyses of cell-free DNA.
Erger, F. ORCID: https://orcid.org/0000-0002-2768-1702, Nörling, D., Borchert, D., Leenen, E., Habbig, S., Wiesener, M.S., Bartram, M.P., Wenzel, A., Becker, C., Toliat, M.R., Nürnberg, P., Beck, B.B. and Altmüller, J. ORCID: https://orcid.org/0000-0003-4372-1521
Genome Medicine 12 (1): 54. 24 June 2020

Functional implications of microbial and viral gut metagenome changes in early stage L-DOPA-naive Parkinson's disease patients.
Bedarf, J.R., Hildebrand, F., Coelho, L.P., Sunagawa, S., Bahram, M., Goeser, F., Bork, P. ORCID: https://orcid.org/0000-0002-2627-833X and Wuellner, U.
Genome Medicine 9 (1): 39. 28 April 2017

Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells.
Middelkamp, S., van Heesch, S. ORCID: https://orcid.org/0000-0001-9593-1980, Braat, A.K., de Ligt, J. ORCID: https://orcid.org/0000-0002-0348-419X, van Iterson, M. ORCID: https://orcid.org/0000-0002-8754-6158, Simonis, M., van Roosmalen, M.J., Kelder, M.J.E., Kruisselbrink, E., Hochstenbach, R., Verbeek, N.E., Ippel, E.F., Adolfs, Y. ORCID: https://orcid.org/0000-0002-0011-1486, Pasterkamp, R.J. ORCID: https://orcid.org/0000-0003-1631-6440, Kloosterman, W.P. ORCID: https://orcid.org/0000-0003-3357-4580, Kuijk, E.W. ORCID: https://orcid.org/0000-0002-1385-6516 and Cuppen, E. ORCID: https://orcid.org/0000-0002-0400-9542
Genome Medicine 9 (1): 9. 26 January 2017

The IL-4/STAT6 signaling axis establishes a conserved microRNA signature in human and mouse macrophages regulating cell survival via miR-342-3p.
Czimmerer, Z., Varga, T., Kiss, M., Vazquez, C.O., Doan-Xuan, Q.M., Rueckerl, D., Tattikota, S.G., Yan, X., Nagy, Z.S., Daniel, B., Poliska, S., Horvath, A., Nagy, G., Varallyay, E., Poy, M.N. ORCID: https://orcid.org/0000-0002-4904-2426, Allen, J.E., Bacso, Z., Abreu-Goodger, C. and Nagy, L.
Genome Medicine 8 (1): 63. 31 May 2016

A roadmap of constitutive NF-κB activity in Hodgkin lymphoma: dominant roles of p50 and p52 revealed by genome-wide analyses.
de Oliveira, K.A.P., Kaergel, E., Heinig, M. ORCID: https://orcid.org/0000-0002-5612-1720, Fontaine, J.F. ORCID: https://orcid.org/0000-0002-1101-4091, Patone, G. ORCID: https://orcid.org/0000-0002-7242-0341, Muro, E.M., Mathas, S. ORCID: https://orcid.org/0000-0001-9626-1413, Hummel, M., Andrade-Navarro, M.A. ORCID: https://orcid.org/0000-0001-6650-1711, Hübner, N. ORCID: https://orcid.org/0000-0002-1218-6223 and Scheidereit, C. ORCID: https://orcid.org/0000-0002-0446-6129
Genome Medicine 8 (1): 28. 17 March 2016

Early aberrant DNA methylation events in a mouse model of acute myeloid leukemia.
Sonnet, M., Claus, R., Becker, N., Zucknick, M., Petersen, J., Lipka, D.B., Oakes, C.C., Andrulis, M., Lier, A., Milsom, M.D., Witte, T., Gu, L., Kim-Wanner, S.Z., Schirmacher, P., Wulfert, M., Gattermann, N., Lübbert, M., Rosenbauer, F. ORCID: https://orcid.org/0000-0001-7977-9421, Rehli, M., Bullinger, L. ORCID: https://orcid.org/0000-0002-5890-5510, Weichenhan, D. and Plass, C.
Genome Medicine 6 (4): 34. 2014

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.
Bainbridge, M.N., Hu, H., Muzny, D.M., Musante, L., Lupski, J.R., Graham, B.H., Chen, W. ORCID: https://orcid.org/0000-0003-3263-1627, Gripp, K.W., Jenny, K., Wienker, T.F., Yang, Y., Sutton, V.R., Gibbs, R.A. and Ropers, H.H.
Genome Medicine 5 (2): 11. 5 February 2013

Mining the literature: new methods to exploit keyword profiles.
Andrade-Navarro, M.A. ORCID: https://orcid.org/0000-0001-6650-1711
Genome Medicine 4 (10): 81. 30 October 2012

Review

Modules, networks and systems medicine for understanding disease and aiding diagnosis.
Gustafsson, M., Nestor, C.E., Zhang, H., Barabási, A.L., Baranzini, S., Brunak, S., Chung, K.F., Federoff, H.J., Gavin, A.C., Meehan, R.R., Picotti, P., Pujana, M.À., Rajewsky, N. ORCID: https://orcid.org/0000-0002-4785-4332, Smith, K.G.C., Sterk, P.J., Villoslada, P. and Benson, M.
Genome Medicine 6 (10): 82. 17 October 2014

Linking genes to diseases: it's all in the data.
Tiffin, N., Andrade-Navarro, M.A. ORCID: https://orcid.org/0000-0001-6650-1711 and Perez-Iratxeta, C.
Genome Medicine 1 (8): 77. 7 August 2009

Editorial

Novel insights into proteomic technologies and their clinical perspective.
Dittmar, G. ORCID: https://orcid.org/0000-0003-3647-8623 and Selbach, M. ORCID: https://orcid.org/0000-0003-2454-8751
Genome Medicine 1 (5): 53. 21 May 2009