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Updated: Feb 19, 2026

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
Published on: June 23, 2012
Fast and robust detection of ancestral selective sweeps
Xiaoheng Cheng1,2, Cheng Xu1, Michael DeGiorgio2,3,4
1Huck Institutes of Life Sciences, Pennsylvania State University, University Park, PA, USA.
We developed a new method, the ancestral branch statistic (ABS), to detect positive selection in ancestral populations. ABS identifies adaptive genes in human evolution, like EDAR and SLC35F3, and is available as open-source software.
Area of Science:
- Population Genetics
- Evolutionary Biology
- Genomics
Background:
- Detecting positive selection in ancestral populations is challenging.
- Existing methods may not be optimal for identifying selection in direct ancestors of multiple descendant populations.
Purpose of the Study:
- Introduce the ancestral branch statistic (ABS), a novel four-population summary statistic.
- Identify genes under positive selection in ancestral human populations.
Main Methods:
- Developed the ancestral branch statistic (ABS).
- Simulated ABS performance against the 3P-CLR method.
- Applied ABS to human genomic data (contemporary East Asian and ancient European).
- Provided open-source software (CalcABS) for genomic scans.
Main Results:
- ABS performs comparably or better than 3P-CLR, especially under model violations.
- Identified known (EDAR) and novel (SLC35F3) candidates for positive selection in ancestral East Asians.
- Confirmed known candidates (MCM6/LCT, SLC45A2, HERC2) and identified novel candidates (SLC30A9, CYP1A2) in ancestral Europeans.
Conclusions:
- ABS is an effective tool for detecting positive selection in ancestral populations.
- The study identified novel genes potentially involved in human adaptation.
- Open-source software facilitates future research in evolutionary genomics.
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