Potenzial und Herausforderungen der personalisierten Genomik und des 1000-Genom-Projekts

A.M. Stütz , J.O. Korbel
Medizinische Genetik 22 ( 2) 242 -247

2010
Pan-cancer analysis of whole genomes

P.J. Campbell , G. Getz , J.O. Korbel , PCAWG Consortium
Nature 578 ( 7793) 82 -82

1,762
2020
Identification of a genetically defined ultra-high-risk group in relapsed pediatric T-lymphoblastic leukemia.

P Richter-Pechańska , J B Kunz , J Hof , M Zimmermann
Blood Cancer Journal 7 ( 2)

49
2017
SPAG7 is a candidate gene for the periodic fever, aphthous stomatitis, pharyngitis and adenopathy (PFAPA) syndrome

S Bens , T Zichner , A M Stütz , A Caliebe
Genes & Immunity 15 ( 3) 190 -194

10
2014
Novel transcribed regions in the human genome.

J. ROZOWSKY , J. WU , Z. LIAN , U. NAGALAKSHMI
Cold Spring Harbor Symposia on Quantitative Biology 71 111 -116

9
2006
Prevalence of chromosomal rearrangements involving non-ETS genes in prostate cancer

MARTINA KLUTH , RAMI GALAL , ANTJE KROHN , JOACHIM WEISCHENFELDT
International Journal of Oncology 46 ( 4) 1637 -1642

17
2015
A global reference for human genetic variation

1000 Genomes Project Consortium ,
Nature 526 ( 7571) 68 -68

14,793
2015
Verarbeitung von Patientendaten in Der Cloud-Die Freiheit Translationaler Forschung Und Der Datenschutz in Europa (in German)

Fruzsina Molnár-Gábor , Korbel Jan O
Zeitschrift Für Datenschutz (ZD) 6 ( 6) 274–81 -274–81

5
2016
ASHLEYS: automated quality control for single-cell Strand-seq data.

Jan O Korbel , Tobias Marschall , Peter Ebert , Ashley D Sanders
Bioinformatics

2021
Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies.

Xuefang Zhao , Ryan L Collins , Wan-Ping Lee , Alexandra M Weber
American Journal of Human Genetics 108 ( 5) 919 -928

38
2021
Mutational mechanisms shaping the coding and noncoding genome of germinal center derived B-cell lymphomas.

Stephan Stilgenbauer , Alexander Claviez , Hendrik G Stunnenberg , Monika Szczepanowski
Leukemia 1 -15

22
2021
Systematic association of genes to phenotypes by genome and literature mining.

Jan O Korbel , Tobias Doerks , Lars J Jensen , Carolina Perez-Iratxeta
PLOS Biology 3 ( 5)

140
2005
Toward understanding and exploiting tumor heterogeneity

Ash A Alizadeh , Victoria Aranda , Alberto Bardelli , Cedric Blanpain
Nature Medicine 21 ( 8) 846 -853

663
2015
Risk-adapted therapy for young children with medulloblastoma (SJYC07): therapeutic and molecular outcomes from a multicentre, phase 2 trial.

Giles W Robinson , Vasilisa A Rudneva , Ivo Buchhalter , Catherine A Billups
Lancet Oncology 19 ( 6) 768 -784

74
2018
Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort

Sebastian M Waszak , Paul A Northcott , Ivo Buchhalter , Giles W Robinson
Lancet Oncology 19 ( 6) 785 -798

276
2018
Genome assembly and haplotyping with Hi-C

Jan O Korbel , Charles Lee
Nature Biotechnology 31 ( 12) 1099 -1101

37
2013
Comprehensive characterization of complex structural variations in cancer by directly comparing genome sequence reads

Valentí Moncunill , Santi Gonzalez , Sílvia Beà , Lise O Andrieux
Nature Biotechnology 32 ( 11) 1106 -1112

76
2014
Prediction of effective genome size in metagenomic samples

Jeroen Raes , Jan O Korbel , Martin J Lercher , Christian von Mering
Genome Biology 8 ( 1) 1 -11

242
2007
304
2009
Genomic structural variations lead to dysregulation of important coding and non-coding RNA species in dilated cardiomyopathy

Jan Haas , Stefan Mester , Alan Lai , Karen S Frese
Embo Molecular Medicine 10 ( 1) 107 -120

28
2018