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DATA-291 - samples

ABSTRACT: This paper describes the work by Akbari V,. et al. on detection of allele specific methylation using oxford nanopore sequencing data. They have developed set of tools, SNVoter and NanoMethPhase, and workflow which enable the detection of allele specific methylation even in samples with sparse coverage of nanopore sequencing data.

PROVIDER: EGAD00001007920 | EGA |

REPOSITORIES: EGA

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Publications

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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