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PUBLICATIONS

Benchmarks for genome sequencing

Published

Author(s)

Justin M. Zook, Marc L. Salit

Abstract

In this issue, Griffith et al. present one of the most comprehensive genome-sequence data sets to date from a patient with myeloid leukemia, including sequencing of normal tissue, primary cancer, and a relapse. Their raw data from a variety of sequencing methods along with a set of validated somatic variant calls provide a valuable resource that can be used to benchmark somatic mutation calling. Benchmarking against resources such as this will let “Next Generation Sequencing” be used for clinical decision making with confidence.
Citation
Cell
Volume
1
Pub Type
Journals

Download Paper

https://doi.org/10.1016/j.cels.2015.09.004

Keywords

genomics, benchmarking, sequencing
Bioscience, Health, Clinical diagnostics, Reference data and Reference materials

Citation

Zook, J. and Salit, M. (2015), Benchmarks for genome sequencing, Cell, [online], https://doi.org/10.1016/j.cels.2015.09.004 (Accessed December 9, 2023)

Created September 23, 2015, Updated January 27, 2020