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Utility of NIST Whole-Genome Reference Materials for the Technical Validation of a Multigene Next-Generation Sequencing Test  Bennett O.V. Shum, Ilya.

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Presentation on theme: "Utility of NIST Whole-Genome Reference Materials for the Technical Validation of a Multigene Next-Generation Sequencing Test  Bennett O.V. Shum, Ilya."— Presentation transcript:

1 Utility of NIST Whole-Genome Reference Materials for the Technical Validation of a Multigene Next-Generation Sequencing Test  Bennett O.V. Shum, Ilya Henner, Daniele Belluoccio, Marcus J. Hinchcliffe  The Journal of Molecular Diagnostics  Volume 19, Issue 4, Pages (July 2017) DOI: /j.jmoldx Copyright © 2017 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

2 Figure 1 Discordant small insertion call at NM_ :c delT in reference material A: In agreement with truth set data, Sanger sequencing reveals a 5T homopolymer in the discordant region (boxed area). B: Visualized in the Integrative Genomics Viewer, validation set data reveal a heterozygous 1-bp T deletion in the discordant region (boxed area). The reference sequence is displayed below the aligned reads. Asterisk indicates a stop codon. The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx ) Copyright © 2017 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

3 Figure 2 Copy number variation detection. Representative relative read depth coverage graphs for 14 exome controls. A: Large duplications were called if relative coverage >1.25 (top dotted line). Sample had a duplication within chr2: B: Large deletions were called if relative coverage <0.735 (bottom dotted line), and no heterozygous variants were found in the region. Samples and had a deletion within chr1: Data are expressed as means ± SD relative coverage for the genomic region analyzed. The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx ) Copyright © 2017 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

4 Figure 3 Workflow for a methods-based validation for targeted next-generation sequencing (NGS) panels. RM, reference material. The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx ) Copyright © 2017 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

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