Development of the Harmony NIPT test using custom Axiom® arrays
Arnold Oliphant, PhD
Wednesday, January 20, 2016
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Chapters
Introduction
Cell-free fetal DNA from maternal blood
Assessment of fetal aneuploidy with cell-free DNA
DANSR Provides Deeper and More Efficient Analysis
Isolate plasma from blood pt1.
DANSR Assay Features pt1.
Isolate plasma from blood pt2.
DANSR Assay Features pt.2
Measurement of Fetal Fraction
Harmony – Reproducible Fetal Percent Measurement
Harmony – Accurate Fetal Fraction Measurement
DANSR Quantitation Modes
Harmony Improvement Goals
Unique Features of DANSR for varied Detection
Illumina HiSeq Abilities
Ion Proton Abilities
Affymetrix Custom Chip
Preliminary DANSR quantitation in three modes
Best Mode DANSR Quantitation
Probe Positioning on Microarray
100000 6um features / sample
384 linked arrays
600 polymorphic assays for fetal fraction estimation
Microarray-Based
Array vs Sequencing Experiment
Array – More Precise Measurement than HiSeq
Sequencing (left) vs Array (right)
Fetal Fraction vs. Trisomy Risk Results on Array
Machine Comparison
Benefits of Array
Conclusion
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The views and opinions expressed by the guest speakers are solely their own and do not necessarily represent the views or opinions of Affymetrix, Inc.
The following product(s) referenced in this presentation is/are manufactured by Affymetrix, Inc., Santa Clara, CA.
• Affymetrix’s 384-and 96-custom arrays:
For Research Use only. Not for use in diagnostic procedures.
• GeneTitan® Multi-Channel Instrument:
For Research Use only. Not for use in diagnostic procedures.
All other Affymetrix products referenced in this presentation are
For Research Use Only. Not for use in diagnostic procedures.
Affymetrix® and GeneTitan® are registered trademarks of Affymetrix, Inc. All other trademarks are the property of their respective owners.