Genomics

Dataset Information

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EGAS00001000224-sc-20121128 - samples

ABSTRACT: Agilent whole exome hybridisation capture was performed on genomic DNA derived from MDS and matched normal DNA from the same patients. Next Generation sequencing performed on the resulting exome libraries and mapped to build 37 of the human reference genome to facilitate the identification of novel cancer genes. Now we aim to discover the prevalence of our findings using bespoke pulldown methods and sequencing the products from a larger set of patient DNA.

PROVIDER: EGAD00001000283 | EGA |

REPOSITORIES: EGA

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Publications

Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts.

Papaemmanuil E E   Cazzola M M   Boultwood J J   Malcovati L L   Vyas P P   Bowen D D   Pellagatti A A   Wainscoat J S JS   Hellstrom-Lindberg E E   Gambacorti-Passerini C C   Godfrey A L AL   Rapado I I   Cvejic A A   Rance R R   McGee C C   Ellis P P   Mudie L J LJ   Stephens P J PJ   McLaren S S   Massie C E CE   Tarpey P S PS   Varela I I   Nik-Zainal S S   Davies H R HR   Shlien A A   Jones D D   Raine K K   Hinton J J   Butler A P AP   Teague J W JW   Baxter E J EJ   Score J J   Galli A A   Della Porta M G MG   Travaglino E E   Groves M M   Tauro S S   Munshi N C NC   Anderson K C KC   El-Naggar A A   Fischer A A   Mustonen V V   Warren A J AJ   Cross N C P NC   Green A R AR   Futreal P A PA   Stratton M R MR   Campbell P J PJ  

The New England journal of medicine 20110926 15

<h4>Background</h4>Myelodysplastic syndromes are a diverse and common group of chronic hematologic cancers. The identification of new genetic lesions could facilitate new diagnostic and therapeutic strategies.<h4>Methods</h4>We used massively parallel sequencing technology to identify somatically acquired point mutations across all protein-coding exons in the genome in 9 patients with low-grade myelodysplasia. Targeted resequencing of the gene encoding RNA splicing factor 3B, subunit 1 (SF3B1),  ...[more]

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