Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 150

1.

Single-cell analysis of structural variations and complex rearrangements with tri-channel processing.

Sanders AD, Meiers S, Ghareghani M, Porubsky D, Jeong H, van Vliet MACC, Rausch T, Richter-Pechańska P, Kunz JB, Jenni S, Bolognini D, Longo GMC, Raeder B, Kinanen V, Zimmermann J, Benes V, Schrappe M, Mardin BR, Kulozik AE, Bornhauser B, Bourquin JP, Marschall T, Korbel JO.

Nat Biotechnol. 2019 Dec 23. doi: 10.1038/s41587-019-0366-x. [Epub ahead of print]

PMID:
31873213
2.

The molecular landscape of ETMR at diagnosis and relapse.

Lambo S, Gröbner SN, Rausch T, Waszak SM, Schmidt C, Gorthi A, Romero JC, Mauermann M, Brabetz S, Krausert S, Buchhalter I, Koster J, Zwijnenburg DA, Sill M, Hübner JM, Mack N, Schwalm B, Ryzhova M, Hovestadt V, Papillon-Cavanagh S, Chan JA, Landgraf P, Ho B, Milde T, Witt O, Ecker J, Sahm F, Sumerauer D, Ellison DW, Orr BA, Darabi A, Haberler C, Figarella-Branger D, Wesseling P, Schittenhelm J, Remke M, Taylor MD, Gil-da-Costa MJ, Łastowska M, Grajkowska W, Hasselblatt M, Hauser P, Pietsch T, Uro-Coste E, Bourdeaut F, Masliah-Planchon J, Rigau V, Alexandrescu S, Wolf S, Li XN, Schüller U, Snuderl M, Karajannis MA, Giangaspero F, Jabado N, von Deimling A, Jones DTW, Korbel JO, von Hoff K, Lichter P, Huang A, Bishop AJR, Pfister SM, Korshunov A, Kool M.

Nature. 2019 Dec;576(7786):274-280. doi: 10.1038/s41586-019-1815-x. Epub 2019 Dec 4.

PMID:
31802000
3.

Human-specific tandem repeat expansion and differential gene expression during primate evolution.

Sulovari A, Li R, Audano PA, Porubsky D, Vollger MR, Logsdon GA; Human Genome Structural Variation Consortium, Warren WC, Pollen AA, Chaisson MJP, Eichler EE.

Proc Natl Acad Sci U S A. 2019 Nov 12;116(46):23243-23253. doi: 10.1073/pnas.1912175116. Epub 2019 Oct 28.

PMID:
31659027
4.

Germline GPR161 Mutations Predispose to Pediatric Medulloblastoma.

Begemann M, Waszak SM, Robinson GW, Jäger N, Sharma T, Knopp C, Kraft F, Moser O, Mynarek M, Guerrini-Rousseau L, Brugieres L, Varlet P, Pietsch T, Bowers DC, Chintagumpala M, Sahm F, Korbel JO, Rutkowski S, Eggermann T, Gajjar A, Northcott P, Elbracht M, Pfister SM, Kontny U, Kurth I.

J Clin Oncol. 2020 Jan 1;38(1):43-50. doi: 10.1200/JCO.19.00577. Epub 2019 Oct 14.

PMID:
31609649
5.

VISOR: a versatile haplotype-aware structural variant simulator for short and long read sequencing.

Bolognini D, Sanders A, Korbel JO, Magi A, Benes V, Rausch T.

Bioinformatics. 2019 Oct 7. pii: btz719. doi: 10.1093/bioinformatics/btz719. [Epub ahead of print]

PMID:
31589307
6.

The NSL complex maintains nuclear architecture stability via lamin A/C acetylation.

Karoutas A, Szymanski W, Rausch T, Guhathakurta S, Rog-Zielinska EA, Peyronnet R, Seyfferth J, Chen HR, de Leeuw R, Herquel B, Kimura H, Mittler G, Kohl P, Medalia O, Korbel JO, Akhtar A.

Nat Cell Biol. 2019 Oct;21(10):1248-1260. doi: 10.1038/s41556-019-0397-z. Epub 2019 Oct 1.

PMID:
31576060
7.

Comment on "Rényi entropy yields artificial biases not in the data and incorrect updating due to the finite-size data".

Jizba P, Korbel J.

Phys Rev E. 2019 Aug;100(2-2):026101. doi: 10.1103/PhysRevE.100.026101.

PMID:
31574602
8.

Author Correction: Leveraging European infrastructures to access 1 million human genomes by 2022.

Saunders G, Baudis M, Becker R, Beltran S, Béroud C, Birney E, Brooksbank C, Brunak S, Van den Bulcke M, Drysdale R, Capella-Gutierrez S, Flicek P, Florindi F, Goodhand P, Gut I, Heringa J, Holub P, Hooyberghs J, Juty N, Keane TM, Korbel JO, Lappalainen I, Leskosek B, Matthijs G, Mayrhofer MT, Metspalu A, Navarro A, Newhouse S, Nyrönen T, Page A, Persson B, Palotie A, Parkinson H, Rambla J, Salgado D, Steinfelder E, Swertz MA, Valencia A, Varma S, Blomberg N, Scollen S.

Nat Rev Genet. 2019 Nov;20(11):702. doi: 10.1038/s41576-019-0178-3.

PMID:
31520075
9.

Leveraging European infrastructures to access 1 million human genomes by 2022.

Saunders G, Baudis M, Becker R, Beltran S, Béroud C, Birney E, Brooksbank C, Brunak S, Van den Bulcke M, Drysdale R, Capella-Gutierrez S, Flicek P, Florindi F, Goodhand P, Gut I, Heringa J, Holub P, Hooyberghs J, Juty N, Keane TM, Korbel JO, Lappalainen I, Leskosek B, Matthijs G, Mayrhofer MT, Metspalu A, Navarro A, Newhouse S, Nyrönen T, Page A, Persson B, Palotie A, Parkinson H, Rambla J, Salgado D, Steinfelder E, Swertz MA, Valencia A, Varma S, Blomberg N, Scollen S.

Nat Rev Genet. 2019 Nov;20(11):693-701. doi: 10.1038/s41576-019-0156-9. Epub 2019 Aug 27. Review. Erratum in: Nat Rev Genet. 2019 Sep 13;:.

PMID:
31455890
10.

Highly rearranged chromosomes reveal uncoupling between genome topology and gene expression.

Ghavi-Helm Y, Jankowski A, Meiers S, Viales RR, Korbel JO, Furlong EEM.

Nat Genet. 2019 Aug;51(8):1272-1282. doi: 10.1038/s41588-019-0462-3. Epub 2019 Jul 15.

PMID:
31308546
11.

Multi-platform discovery of haplotype-resolved structural variation in human genomes.

Chaisson MJP, Sanders AD, Zhao X, Malhotra A, Porubsky D, Rausch T, Gardner EJ, Rodriguez OL, Guo L, Collins RL, Fan X, Wen J, Handsaker RE, Fairley S, Kronenberg ZN, Kong X, Hormozdiari F, Lee D, Wenger AM, Hastie AR, Antaki D, Anantharaman T, Audano PA, Brand H, Cantsilieris S, Cao H, Cerveira E, Chen C, Chen X, Chin CS, Chong Z, Chuang NT, Lambert CC, Church DM, Clarke L, Farrell A, Flores J, Galeev T, Gorkin DU, Gujral M, Guryev V, Heaton WH, Korlach J, Kumar S, Kwon JY, Lam ET, Lee JE, Lee J, Lee WP, Lee SP, Li S, Marks P, Viaud-Martinez K, Meiers S, Munson KM, Navarro FCP, Nelson BJ, Nodzak C, Noor A, Kyriazopoulou-Panagiotopoulou S, Pang AWC, Qiu Y, Rosanio G, Ryan M, Stütz A, Spierings DCJ, Ward A, Welch AE, Xiao M, Xu W, Zhang C, Zhu Q, Zheng-Bradley X, Lowy E, Yakneen S, McCarroll S, Jun G, Ding L, Koh CL, Ren B, Flicek P, Chen K, Gerstein MB, Kwok PY, Lansdorp PM, Marth GT, Sebat J, Shi X, Bashir A, Ye K, Devine SE, Talkowski ME, Mills RE, Marschall T, Korbel JO, Eichler EE, Lee C.

Nat Commun. 2019 Apr 16;10(1):1784. doi: 10.1038/s41467-018-08148-z.

12.

Maximum Entropy Principle in Statistical Inference: Case for Non-Shannonian Entropies.

Jizba P, Korbel J.

Phys Rev Lett. 2019 Mar 29;122(12):120601. doi: 10.1103/PhysRevLett.122.120601.

PMID:
30978043
13.

Genomic and transcriptomic changes complement each other in the pathogenesis of sporadic Burkitt lymphoma.

López C, Kleinheinz K, Aukema SM, Rohde M, Bernhart SH, Hübschmann D, Wagener R, Toprak UH, Raimondi F, Kreuz M, Waszak SM, Huang Z, Sieverling L, Paramasivam N, Seufert J, Sungalee S, Russell RB, Bausinger J, Kretzmer H, Ammerpohl O, Bergmann AK, Binder H, Borkhardt A, Brors B, Claviez A, Doose G, Feuerbach L, Haake A, Hansmann ML, Hoell J, Hummel M, Korbel JO, Lawerenz C, Lenze D, Radlwimmer B, Richter J, Rosenstiel P, Rosenwald A, Schilhabel MB, Stein H, Stilgenbauer S, Stadler PF, Szczepanowski M, Weniger MA, Zapatka M, Eils R, Lichter P, Loeffler M, Möller P, Trümper L, Klapper W; ICGC MMML-Seq Consortium, Hoffmann S, Küppers R, Burkhardt B, Schlesner M, Siebert R.

Nat Commun. 2019 Mar 29;10(1):1459. doi: 10.1038/s41467-019-08578-3.

14.

Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2.

Lipinski S, Petersen BS, Barann M, Piecyk A, Tran F, Mayr G, Jentzsch M, Aden K, Stengel ST, Klostermeier UC, Sheth V, Ellinghaus D, Rausch T, Korbel JO, Nothnagel M, Krawczak M, Gilissen C, Veltman JA, Forster M, Forster P, Lee CC, Fritscher-Ravens A, Schreiber S, Franke A, Rosenstiel P.

Cold Spring Harb Mol Case Stud. 2019 Feb 1;5(1). pii: a002428. doi: 10.1101/mcs.a002428. Print 2019 Feb.

15.

InTAD: chromosome conformation guided analysis of enhancer target genes.

Okonechnikov K, Erkek S, Korbel JO, Pfister SM, Chavez L.

BMC Bioinformatics. 2019 Jan 31;20(1):60. doi: 10.1186/s12859-019-2655-2.

16.

Enriched power of disease-concordant twin-case-only design in detecting interactions in genome-wide association studies.

Li W, Baumbach J, Mohammadnejad A, Brasch-Andersen C, Vandin F, Korbel JO, Tan Q.

Eur J Hum Genet. 2019 Apr;27(4):631-636. doi: 10.1038/s41431-018-0320-2. Epub 2019 Jan 18.

PMID:
30659261
17.

Comprehensive Analysis of Chromatin States in Atypical Teratoid/Rhabdoid Tumor Identifies Diverging Roles for SWI/SNF and Polycomb in Gene Regulation.

Erkek S, Johann PD, Finetti MA, Drosos Y, Chou HC, Zapatka M, Sturm D, Jones DTW, Korshunov A, Rhyzova M, Wolf S, Mallm JP, Beck K, Witt O, Kulozik AE, Frühwald MC, Northcott PA, Korbel JO, Lichter P, Eils R, Gajjar A, Roberts CWM, Williamson D, Hasselblatt M, Chavez L, Pfister SM, Kool M.

Cancer Cell. 2019 Jan 14;35(1):95-110.e8. doi: 10.1016/j.ccell.2018.11.014. Epub 2018 Dec 27.

18.

Molecular Evolution of Early-Onset Prostate Cancer Identifies Molecular Risk Markers and Clinical Trajectories.

Gerhauser C, Favero F, Risch T, Simon R, Feuerbach L, Assenov Y, Heckmann D, Sidiropoulos N, Waszak SM, Hübschmann D, Urbanucci A, Girma EG, Kuryshev V, Klimczak LJ, Saini N, Stütz AM, Weichenhan D, Böttcher LM, Toth R, Hendriksen JD, Koop C, Lutsik P, Matzk S, Warnatz HJ, Amstislavskiy V, Feuerstein C, Raeder B, Bogatyrova O, Schmitz EM, Hube-Magg C, Kluth M, Huland H, Graefen M, Lawerenz C, Henry GH, Yamaguchi TN, Malewska A, Meiners J, Schilling D, Reisinger E, Eils R, Schlesner M, Strand DW, Bristow RG, Boutros PC, von Kalle C, Gordenin D, Sültmann H, Brors B, Sauter G, Plass C, Yaspo ML, Korbel JO, Schlomm T, Weischenfeldt J.

Cancer Cell. 2018 Dec 10;34(6):996-1011.e8. doi: 10.1016/j.ccell.2018.10.016.

19.

Alfred: interactive multi-sample BAM alignment statistics, feature counting and feature annotation for long- and short-read sequencing.

Rausch T, Hsi-Yang Fritz M, Korbel JO, Benes V.

Bioinformatics. 2019 Jul 15;35(14):2489-2491. doi: 10.1093/bioinformatics/bty1007.

20.

Chromatin modifiers Mdm2 and RNF2 prevent RNA:DNA hybrids that impair DNA replication.

Klusmann I, Wohlberedt K, Magerhans A, Teloni F, Korbel JO, Altmeyer M, Dobbelstein M.

Proc Natl Acad Sci U S A. 2018 Nov 27;115(48):E11311-E11320. doi: 10.1073/pnas.1809592115. Epub 2018 Nov 9.

Supplemental Content

Loading ...
Support Center