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Rare Event Detection Using Error-corrected DNA and RNA Sequencing
Published on: August 3, 2018
Allele frequency estimation from ambiguous data: using resampling schema in validating frequency estimates and in
José Manuel Nunes1, Maria Eugenia Riccio, Jean-Marie Tiercy
1Laboratory of Anthropology, Genetics and Peopling History (AGP), Anthropology Unit, Department of Genetics and Evolution, University of Geneva, Switzerland. Jose.DeAbreuNunes@unige.ch
Human Biology
|July 12, 2011
Summary
A new resampling method statistically assesses differences between population genetic diversity data from various molecular typing techniques. This approach validates frequency estimates and uniquely tests selective neutrality using only available frequency data.
Area of Science:
- Population genetics
- Molecular typing
- Human genetics
Background:
- Molecular typing techniques offer precise population genetic diversity data but introduce ambiguities.
- Comparing frequency distributions from different techniques is crucial for accurate analysis.
Purpose of the Study:
- To develop a statistical resampling scheme to evaluate differences between frequency distributions from alternative molecular typing methods.
- To demonstrate the applicability of this scheme for testing selective neutrality using sample frequencies.
Main Methods:
- A resampling scheme was developed to statistically assess the significance of differences between two frequency distributions.
- The method was applied to compare HLA locus frequency estimates from two molecular typing techniques (reverse PCR-SSO and PCR-SSP) in a Munda population sample.
Main Results:
- The developed resampling scheme effectively evaluates the significance of differences between frequency distributions.
- Differences in frequency estimates between the two typing techniques were less than sampling variation.
- The resampling approach proved effective for validating frequency estimates and testing selective neutrality.
Conclusions:
- Resampling schemes are effective for validating frequency estimates when alternative data are available.
- This resampling method is a unique tool for testing selective neutrality using only population frequency data.
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