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Rare Event Detection Using Error-corrected DNA and RNA Sequencing
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A series of recommended tests when validating probabilistic DNA profile interpretation software
Jo-Anne Bright1, Ian W Evett2, Duncan Taylor3
1ESR, Private Bag 92021, Auckland 1142, New Zealand; University of Auckland, Department of Statistics, Private Bag 92019, Auckland 1142, New Zealand.
Forensic Science International. Genetics
|December 3, 2014
Summary
This study introduces experiments for validating probabilistic DNA interpretation software. It addresses slow laboratory adoption by providing transparent calculations for software like STRmix™, LRmix, and Lab Retriever.
Area of Science:
- Forensic Science
- Genetics
- Biotechnology
Background:
- Forensic DNA interpretation is shifting towards continuous methods.
- Laboratory adoption of probabilistic software is slow due to complex calculations and validation concerns.
Purpose of the Study:
- To describe experiments for the internal validation of probabilistic DNA interpretation software.
- To address the perceived complexity of calculations and lack of validation requirements.
Main Methods:
- Developed experiments for validating probabilistic interpretation software.
- Included single source and mixed DNA profiles with and without dropout and drop-in.
- Assessed software reproducibility through replicate analyses using STRmix™, LRmix, and Lab Retriever.
Main Results:
- Demonstrated reproducible results for probabilistic DNA interpretation software.
- Provided transparent calculations for specific profile examples.
- Facilitated partial internal validation of probabilistic interpretation software.
Conclusions:
- The described experiments can aid in the internal validation of probabilistic DNA interpretation software.
- Transparent calculations and validation methods can increase laboratory confidence and uptake of new technologies.
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