Genomics

Dataset Information

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Ena-DATASET-Hospital Clinic Barcelona-12-08-2015-11:33:40:243-146 - samples

ABSTRACT: Exome Sequencing. 3 μg of genomic DNA from each sample were sheared and used for the construction of a paired-end sequencing library as described in the paired-end sequencing sample preparation protocol provided by Illumina41. Enrichment of exonic sequences was then performed for each library using either the Sure Select Human All Exon 50 Mb or All Exon+UTRs v4 kits following the manufacturer’s instructions (Agilent Technologies). Exon-enriched DNA was pulled down by magnetic beads coated with streptavidin (Invitrogen), followed by washing, elution and 18 additional cycles of amplification of the captured library. Enriched libraries were sequenced (2 × 76 bp) in one lane of an Illumina GAIIx sequencer or in two lanes of a HiSeq2000 when using pools of eight samples.

PROVIDER: EGAD00001001464 | EGA |

REPOSITORIES: EGA

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Publications

Non-coding recurrent mutations in chronic lymphocytic leukaemia.

Puente Xose S XS   Beà Silvia S   Valdés-Mas Rafael R   Villamor Neus N   Gutiérrez-Abril Jesús J   Martín-Subero José I JI   Munar Marta M   Rubio-Pérez Carlota C   Jares Pedro P   Aymerich Marta M   Baumann Tycho T   Beekman Renée R   Belver Laura L   Carrio Anna A   Castellano Giancarlo G   Clot Guillem G   Colado Enrique E   Colomer Dolors D   Costa Dolors D   Delgado Julio J   Enjuanes Anna A   Estivill Xavier X   Ferrando Adolfo A AA   Gelpí Josep L JL   González Blanca B   González Santiago S   González Marcos M   Gut Marta M   Hernández-Rivas Jesús M JM   López-Guerra Mónica M   Martín-García David D   Navarro Alba A   Nicolás Pilar P   Orozco Modesto M   Payer Ángel R ÁR   Pinyol Magda M   Pisano David G DG   Puente Diana A DA   Queirós Ana C AC   Quesada Víctor V   Romeo-Casabona Carlos M CM   Royo Cristina C   Royo Romina R   Rozman María M   Russiñol Nuria N   Salaverría Itziar I   Stamatopoulos Kostas K   Stunnenberg Hendrik G HG   Tamborero David D   Terol María J MJ   Valencia Alfonso A   López-Bigas Nuria N   Torrents David D   Gut Ivo I   López-Guillermo Armando A   López-Otín Carlos C   Campo Elías E  

Nature 20150722 7574

Chronic lymphocytic leukaemia (CLL) is a frequent disease in which the genetic alterations determining the clinicobiological behaviour are not fully understood. Here we describe a comprehensive evaluation of the genomic landscape of 452 CLL cases and 54 patients with monoclonal B-lymphocytosis, a precursor disorder. We extend the number of CLL driver alterations, including changes in ZNF292, ZMYM3, ARID1A and PTPN11. We also identify novel recurrent mutations in non-coding regions, including the  ...[more]

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