Genomics

Dataset Information

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Ena-DATASET-RTL-03-04-2014-12:58:19:275-109 - samples

ABSTRACT: Fernandez-Cuesta et al., 2014, Nature Communication, Whole genome sequencing was performed using a read length of 2x100 bp for all samples. On average, 110 Gb of sequence were produced per sample, aiming a mean coverage of 30x for both tumour and matched normal.

PROVIDER: EGAD00001000813 | EGA |

REPOSITORIES: EGA

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Publications

Frequent mutations in chromatin-remodelling genes in pulmonary carcinoids.

Fernandez-Cuesta Lynnette L   Peifer Martin M   Lu Xin X   Sun Ruping R   Ozretić Luka L   Seidal Danila D   Zander Thomas T   Leenders Frauke F   George Julie J   Müller Christian C   Dahmen Ilona I   Pinther Berit B   Bosco Graziella G   Konrad Kathryn K   Altmüller Janine J   Nürnberg Peter P   Achter Viktor V   Lang Ulrich U   Schneider Peter M PM   Bogus Magdalena M   Soltermann Alex A   Brustugun Odd Terje OT   Helland Åslaug Å   Solberg Steinar S   Lund-Iversen Marius M   Ansén Sascha S   Stoelben Erich E   Wright Gavin M GM   Russell Prudence P   Wainer Zoe Z   Solomon Benjamin B   Field John K JK   Hyde Russell R   Davies Michael Pa MP   Heukamp Lukas C LC   Petersen Iver I   Perner Sven S   Lovly Christine C   Cappuzzo Federico F   Travis William D WD   Wolf Jürgen J   Vingron Martin M   Brambilla Elisabeth E   Haas Stefan A SA   Buettner Reinhard R   Thomas Roman K RK  

Nature communications 20140327

Pulmonary carcinoids are rare neuroendocrine tumours of the lung. The molecular alterations underlying the pathogenesis of these tumours have not been systematically studied so far. Here we perform gene copy number analysis (n=54), genome/exome (n=44) and transcriptome (n=69) sequencing of pulmonary carcinoids and observe frequent mutations in chromatin-remodelling genes. Covalent histone modifiers and subunits of the SWI/SNF complex are mutated in 40 and 22.2% of the cases, respectively, with M  ...[more]

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