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Peter Nürnberg is head of the Cologne Center for Genomics (CCG) which houses a large genomics core facility. It provides services in high-throughput genomics research to collaborators inside and outside of the University of Cologne. With a major focus on next-generation sequencing (NGS) applications, it operates a state-of-the-art NGS platform with modern laboratory infrastructure and streamlined analysis workflows. The development and optimization of these workflows on HPC systems is a key task of the CCG bioinformatics team and is pursued in close cooperation with the Regional Computing Center of the University of Cologne (RRZK). Furthermore, BigData technology such as NoSQL databases is adopted to accommodate the ever-growing amount of NGS data produced at the CCG and enables accelerated interactive downstream analyses. The Varbank database and analysis pipeline for whole-exome and whole-genome sequence analyses is such a solution that attracted already more than 250 users worldwide. The CCG NGS platform has been instrumental in a multitude of genomic research projects, which is documented by more than 400 publications, and it provides extensive services for the CECAD and CEPLAS clusters of excellence.

Selected publications

  1. Huppke P, Weissbach S, Church JA, Schnur R, Krusen M, Dreha-Kulaczewski S, Kühn-Velten WN, Wolf A, Huppke B, Millan F, Begtrup A, Almusafri F, Thiele H, Altmüller J, Nürnberg P, Müller M, Gärtner J. Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder. Nat Commun 2017 Oct 10;8(1):818. doi: 10.1038/s41467-017-00932-7.
  2. Altmüller J, Motameny S, Becker C, Thiele H, Chatterjee S, Wollnik B, Nürnberg P. A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product. Biol Chem 2016 Aug 1;397(8):791-801. doi: 10.1515/hsz-2015-0300.
  3. Jabbari K, Nürnberg P. A genomic view on epilepsy and autism candidate genes. Genomics 2016 Jul;108(1):31-6. doi: 10.1016/j.ygeno.2016.01.001.
  4. George J, Lim JS, Jang SJ, Cun Y, Ozretić L, Kong G, Leenders F, Lu X, Fernández-Cuesta L, Bosco G, Müller C, Dahmen I, Jahchan NS, Park KS, Yang D, Karnezis AN, Vaka D, Torres A, Wang MS, Korbel JO, Menon R, Chun SM, Kim D, Wilkerson M, Hayes N, Engelmann D, Pützer B, Bos M, Michels S, Vlasic I, Seidel D, Pinther B, Schaub P, Becker C, Altmüller J, Yokota J, Kohno T, Iwakawa R, Tsuta K, Noguchi M, Muley T, Hoffmann H, Schnabel PA, Petersen I, Chen Y, Soltermann A, Tischler V, Choi CM, Kim YH, Massion PP, Zou Y, Jovanovic D, Kontic M, Wright GM, Russell PA, Solomon B, Koch I, Lindner M, Muscarella LA, la Torre A, Field JK, Jakopovic M, Knezevic J, Castaños-Vélez E, Roz L, Pastorino U, Brustugun OT, Lund-Iversen M, Thunnissen E, Köhler J, Schuler M, Botling J, Sandelin M, Sanchez-Cespedes M, Salvesen HB, Achter V, Lang U, Bogus M, Schneider PM, Zander T, Ansén S, Hallek M, Wolf J, Vingron M, Yatabe Y, Travis WD, Nürnberg P, Reinhardt C, Perner S, Heukamp L, Büttner R, Haas SA, Brambilla E, Peifer M, Sage J, Thomas RK. Comprehensive genomic profiles of small cell lung cancer. Nature 2015 Aug 6;524(7563):47-53. doi: 10.1038/nature14664. Epub 2015 Jul 13.
  5. Kawalia A, Motameny S, Wonczak S, Thiele H, Nieroda L, Jabbari K, Borowski S, Sinha V, Gunia W, Lang U, Achter V, Nürnberg P. Leveraging the power of high performance computing for next generation sequencing data analysis: tricks and twists from a high throughput exome workflow. PLoS One 2015 May 5;10(5):e0126321. doi: 10.1371/journal.pone.0126321. eCollection 2015.
  6. Martin CA,* Ahmad I,* Klingseisen A,* Hussain MS,*, Bicknell LS, Leitch A, Nürnberg G, Toliat MR, Murray JE, Hunt D, Khan F, Ali Z, Tinschert S, Ding J, Keith C, Harley ME, Heyn P, Mueller R, Hoffman I, Daire VC, Dollfus H, Dupuis L, McElreavey K, Kariminejad A, Mendoza-Londono R, Moore AT, Saggar A, Schlechter C, Weleber R, Thiele H, Altmüller J, Höhne W, Hurles ME, Noegel AA, Baig SM, Nürnberg P**, Jackson AP**. Mutations in PLK4, a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy. Nat Genet 2014, Oct 26. doi: 10.1038/ng.3122. [Epub ahead of print]
  7. Wirschell M, Olbrich H, Werner C, Tritschler D, Bower R, Sale WS, Loges NT, Pennekamp P, Lindberg S, Stenram U, Carlén B, Horak E, Köhler G, Nürnberg P, Nürnberg G, Porter ME, Omran H. The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans. Nat Genet (2013) 45:262-268
  8. Chaki M, Airik R, Ghosh AK, Giles RH, Chen R, Slaats GG, Wang H, Hurd TW, Zhou W, Cluckey A, Gee HY, Ramaswami G, Hong CJ, Hamilton BA, Cervenka I, Ganji RS, Bryja V, Arts HH, van Reeuwijk J, Oud MM, Letteboer SJ, Roepman R, Husson H, Ibraghimov-Beskrovnaya O, Yasunaga T, Walz G, Eley L, Sayer JA, Schermer B, Liebau MC, Benzing T, Le Corre S, Drummond I, Janssen S, Allen SJ, Natarajan S, O'Toole JF, Attanasio M, Saunier S, Antignac C, Koenekoop RK, Ren H, Lopez I, Nayir A, Stoetzel C, Dollfus H, Massoudi R, Gleeson JG, Andreoli SP, Doherty DG, Lindstrad A, Golzio C, Katsanis N, Pape L, Abboud EB, Al-Rajhi AA, Lewis RA, Omran H, Lee EY, Wang S, Sekiguchi JM, Saunders R, Johnson CA, Garner E, Vanselow K, Andersen JS, Shlomai J, Nürnberg G, Nürnberg P, Levy S, Smogorzewska A, Otto EA, Hildebrandt F. Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell 2012 Aug 3;150(3):533-48. doi: 10.1016/j.cell.2012.06.028.
  9. Frommolt P, Abdallah AT, Altmüller J, Motameny S, Thiele H, Becker C, Stemshorn K, Fischer M, Freilinger T, Nürnberg P. Assessing the enrichment performance in targeted resequencing experiments. Hum Mutat 2012 Apr;33(4):635-41. doi: 10.1002/humu.22036. Epub 2012 Feb 28.
  10. Rutsch F, Gailus S, Miousse IR, Suormala T, Sagné C, Toliat MR, Nürnberg G, Wittkampf T, Buers I, Sharifi A, Stucki M, Becker C, Baumgartner M, Robenek H, Marquardt T, Höhne W, Gasnier B, Rosenblatt DS, Fowler B, Nürnberg P. Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism. Nat Genet 2009, 41:234-239.