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Validation for Clinical Use of, and Initial Clinical Experience with, a Novel Approach to Population-Based Carrier Screening using High-Throughput, Next-Generation.

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Presentation on theme: "Validation for Clinical Use of, and Initial Clinical Experience with, a Novel Approach to Population-Based Carrier Screening using High-Throughput, Next-Generation."— Presentation transcript:

1 Validation for Clinical Use of, and Initial Clinical Experience with, a Novel Approach to Population-Based Carrier Screening using High-Throughput, Next-Generation DNA Sequencing  Stephanie Hallam, Heather Nelson, Valerie Greger, Cynthia Perreault-Micale, Jocelyn Davie, Nicole Faulkner, Dana Neitzel, Kristie Casey, Mark A. Umbarger, Niru Chennagiri, Alexander C. Kramer, Gregory J. Porreca, Caleb J. Kennedy  The Journal of Molecular Diagnostics  Volume 16, Issue 2, Pages (March 2014) DOI: /j.jmoldx Copyright © 2014 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

2 Figure 1 Variant quality metric distributions. A: Depth of coverage, quality-by-depth, and strand bias for each DNA source (blood in red and Coriell samples in blue). B: Depth of coverage distributions for each CV run. C: Quality-by-depth distributions for each CV run. D: Strand bias distributions for each CV run. The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx ) Copyright © 2014 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

3 Figure 2 Reference bias. Cumulative allele ratio densities are shown for all TP heterozygous substitutions and insertions and deletions. The median density and expected allele ratio are shown, respectively, as horizontal and vertical gray dashed lines. The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx ) Copyright © 2014 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

4 Figure 3 Effects of varying amounts of DNA on sample callability. CV-4. Red 135 indicates 1.35 μg DNA input, green 150 indicates 1.5 μg DNA input, and blue 165 indicates 1.65 μg DNA input. The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx ) Copyright © 2014 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

5 Figure 4 Percent callable bases for temperature assessment data. CV5 (shown in red, orange, and yellow). The percent callability of samples with the blinded accuracy data, CV-7 (shown in green), which uses Coriell samples, is also shown as a comparator. The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx ) Copyright © 2014 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

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