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Ena-DATASET-TGEN-24-05-2016-20:32:03:406-20 - samples

ABSTRACT: Paired PCR-free whole genome sequencing data of a matched metastatic melanoma cell line (COLO829) and normal across three lineages and across separate institutions, with independent library preparations, sequencing, and analysis. The data was generated with mean mapped coverages of 99X for COLO829 and 103X for the paired normal across three institutions. Overall, common events include >35,000 point mutations, 446 small insertion/deletions, and >6,000 genes affected by copy number changes. We present this reference to the community as an initial standard for enabling quantitative evaluation of somatic mutation pipelines across institutions.

PROVIDER: EGAD00001002142 | EGA |

REPOSITORIES: EGA

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A somatic reference standard for cancer genome sequencing.

Craig David W DW Nasser Sara S Corbett Richard R Chan Simon K SK Murray Lisa L Legendre Christophe C Tembe Waibhav W Adkins Jonathan J Kim Nancy N Wong Shukmei S Baker Angela A Enriquez Daniel D Pond Stephanie S Pleasance Erin E Mungall Andrew J AJ Moore Richard A RA McDaniel Timothy T Ma Yussanne Y Jones Steven J M SJ Marra Marco A MA Carpten John D JD Liang Winnie S WS

Scientific reports 20160420

Large-scale multiplexed identification of somatic alterations in cancer has become feasible with next generation sequencing (NGS). However, calibration of NGS somatic analysis tools has been hampered by a lack of tumor/normal reference standards. We thus performed paired PCR-free whole genome sequencing of a matched metastatic melanoma cell line (COLO829) and normal across three lineages and across separate institutions, with independent library preparations, sequencing, and analysis. We generat ...[more]

PMID: 27094764

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