SHH medulloblastoma samples - EGA European Genome-Phenome Archive

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD00001000697	Illumina HiSeq sequence data (with >30x coverage) were aligned to the hg19 human reference genome assembly using BWA (Li and Durbin, 2009); duplicate reads were removed from the final BAM file. No realignment or recalibration was performed.	Illumina Genome Analyzer IIx Illumina HiSeq 2000	90
EGAD00001000698	Illumina HiSeq sequence data (with >80x coverage) were aligned to the hg19 human reference genome assembly using BWA (Li and Durbin, 2009); duplicate reads were removed from the final BAM file. No realignment or recalibration was performed.The whole exome sequencing data of 20 SHH medulloblastomas from phs000504.v1.p1 dataset has been used in our study on SHH medulloblastomas: http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000504.v1.p1		4
EGAD00001000699	Illumina HiSeq sequence data (with >80x coverage) were aligned to the hg19 human reference genome assembly using BWA (Li and Durbin, 2009); duplicate reads were removed from the final BAM file. No realignment or recalibration was performed.	Illumina HiSeq 2000	78
EGAD00001001624	release_2: ICGC PedBrain: whole exome sequencing and Target-Seq	Illumina HiSeq 2000	188
EGAD00001001625	release_2: ICGC PedBrain: whole genome sequencing	Illumina Genome Analyzer IIx Illumina HiSeq 2000	209

Publications	Citations
Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition. Kool M, Jones DT, Jäger N, Northcott PA, Pugh TJ, Hovestadt V, Piro RM, Esparza LA, Markant SL, Remke M, Milde T, Bourdeaut F, Ryzhova M, Sturm D, Pfaff E, Stark S, Hutter S, Seker-Cin H, Johann P, Bender S, Schmidt C, Rausch T, Shih D, Reimand J, Sieber L, Wittmann A, Linke L, Witt H, Weber UD, Zapatka M, König R, Beroukhim R, Bergthold G, van Sluis P, Volckmann R, Koster J, Versteeg R, Schmidt S, Wolf S, Lawerenz C, Bartholomae CC, von Kalle C, Unterberg A, Herold-Mende C, Hofer S, Kulozik AE, von Deimling A, Scheurlen W, Felsberg J, Reifenberger G, Hasselblatt M, Crawford JR, Grant GA, Jabado N, Perry A, Cowdrey C, Croul S, Zadeh G, Korbel JO, Doz F, Delattre O, Bader GD, McCabe MG, Collins VP, Kieran MW, Cho YJ, Pomeroy SL, Witt O, Brors B, Taylor MD, Schüller U, Korshunov A, Eils R, Wechsler-Reya RJ, Lichter P, Pfister SM, ICGC PedBrain Tumor Project. Cancer Cell 25: 2014 393-405	508
Multi-omic and single-cell profiling of chromothriptic medulloblastoma reveals genomic and transcriptomic consequences of genome instability. Smirnov P, Przybilla MJ, Simovic-Lorenz M, Parra RG, Susak H, Ratnaparkhe M, Wong JK, Körber V, Mallm JP, Philippos G, Sill M, Kolb T, Kumar R, Casiraghi N, Okonechnikov K, Ghasemi DR, Maaß KK, Pajtler KW, Jauch A, Korshunov A, Höfer T, Zapatka M, Pfister SM, Huber W, Stegle O, Ernst A. Nat Commun 15: 2024 10183	4

Publications

Citations

Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition.
Kool M, Jones DT, Jäger N, Northcott PA, Pugh TJ, Hovestadt V, Piro RM, Esparza LA, Markant SL, Remke M, Milde T, Bourdeaut F, Ryzhova M, Sturm D, Pfaff E, Stark S, Hutter S, Seker-Cin H, Johann P, Bender S, Schmidt C, Rausch T, Shih D, Reimand J, Sieber L, Wittmann A, Linke L, Witt H, Weber UD, Zapatka M, König R, Beroukhim R, Bergthold G, van Sluis P, Volckmann R, Koster J, Versteeg R, Schmidt S, Wolf S, Lawerenz C, Bartholomae CC, von Kalle C, Unterberg A, Herold-Mende C, Hofer S, Kulozik AE, von Deimling A, Scheurlen W, Felsberg J, Reifenberger G, Hasselblatt M, Crawford JR, Grant GA, Jabado N, Perry A, Cowdrey C, Croul S, Zadeh G, Korbel JO, Doz F, Delattre O, Bader GD, McCabe MG, Collins VP, Kieran MW, Cho YJ, Pomeroy SL, Witt O, Brors B, Taylor MD, Schüller U, Korshunov A, Eils R, Wechsler-Reya RJ, Lichter P, Pfister SM, ICGC PedBrain Tumor Project. Cancer Cell 25: 2014 393-405

508

Multi-omic and single-cell profiling of chromothriptic medulloblastoma reveals genomic and transcriptomic consequences of genome instability.
Smirnov P, Przybilla MJ, Simovic-Lorenz M, Parra RG, Susak H, Ratnaparkhe M, Wong JK, Körber V, Mallm JP, Philippos G, Sill M, Kolb T, Kumar R, Casiraghi N, Okonechnikov K, Ghasemi DR, Maaß KK, Pajtler KW, Jauch A, Korshunov A, Höfer T, Zapatka M, Pfister SM, Huber W, Stegle O, Ernst A. Nat Commun 15: 2024 10183