Genomics

Dataset Information

0

CLL Genome


ABSTRACT: The Chronic Lymphocytic Leukemia (CLL) Genome Project aims to identify genetic alterations involved in the development and progression of the CLL, which are still unknown, with the objective of generating a comprehensive catalogue of genetic alterations in 500 independent tumours. The CLL Genome Project, as a contributing member of the International Cancer Genome Consortium (ICGC), has the purposes of creating diagnostic tools, discovering therapeutic targets and developing new strategies that will allow a customized therapy for CLL in order to make it more precise and effective. This study consists of two datasets. EGAD00001000023 described in the Nature paper (2011), Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia, and the dataset EGA00001000044 & & EGAD00001000083 described in the Nature (2011) paper, Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia.Additional data generated within the ICGC-CLL genome project can be found in studies EGAS00001000374 and EGAS00001001306

PROVIDER: EGAS00000000092 | EGA |

REPOSITORIES: EGA

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Publications

Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia.

Puente Xose S XS   Pinyol Magda M   Quesada Víctor V   Conde Laura L   Ordóñez Gonzalo R GR   Villamor Neus N   Escaramis Georgia G   Jares Pedro P   Beà Sílvia S   González-Díaz Marcos M   Bassaganyas Laia L   Baumann Tycho T   Juan Manel M   López-Guerra Mónica M   Colomer Dolors D   Tubío José M C JM   López Cristina C   Navarro Alba A   Tornador Cristian C   Aymerich Marta M   Rozman María M   Hernández Jesús M JM   Puente Diana A DA   Freije José M P JM   Velasco Gloria G   Gutiérrez-Fernández Ana A   Costa Dolors D   Carrió Anna A   Guijarro Sara S   Enjuanes Anna A   Hernández Lluís L   Yagüe Jordi J   Nicolás Pilar P   Romeo-Casabona Carlos M CM   Himmelbauer Heinz H   Castillo Ester E   Dohm Juliane C JC   de Sanjosé Silvia S   Piris Miguel A MA   de Alava Enrique E   San Miguel Jesús J   Royo Romina R   Gelpí Josep L JL   Torrents David D   Orozco Modesto M   Pisano David G DG   Valencia Alfonso A   Guigó Roderic R   Bayés Mónica M   Heath Simon S   Gut Marta M   Klatt Peter P   Marshall John J   Raine Keiran K   Stebbings Lucy A LA   Futreal P Andrew PA   Stratton Michael R MR   Campbell Peter J PJ   Gut Ivo I   López-Guillermo Armando A   Estivill Xavier X   Montserrat Emili E   López-Otín Carlos C   Campo Elías E  

Nature 20110605 7354


Chronic lymphocytic leukaemia (CLL), the most frequent leukaemia in adults in Western countries, is a heterogeneous disease with variable clinical presentation and evolution. Two major molecular subtypes can be distinguished, characterized respectively by a high or low number of somatic hypermutations in the variable region of immunoglobulin genes. The molecular changes leading to the pathogenesis of the disease are still poorly understood. Here we performed whole-genome sequencing of four cases  ...[more]

Publication: 1/2

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