Using Genetic Data to Build Intuition about Population History

TL;DR

This paper discusses using nucleotide site patterns as a simple, exploratory tool for understanding population history from genetic data, complementing formal statistical methods.

Contribution

It introduces a novel approach employing nucleotide site patterns for exploratory analysis of genetic data to infer population history.

Findings

Site patterns effectively summarize genetic data

Method aids in hypothesis generation

Complementary to formal statistical tests

Abstract

Genetic data are now routinely used to study the history of population size, subdivision, and gene flow. A variety of formal statistical methods is available for testing hypotheses and fitting models to data. Yet it is often unclear which hypotheses are worth testing, which models worth fitting. There is a need for less formal methods that can be used in exploratory analysis of genetic data. One approach to this problem uses *nucleotide site patterns*, which provide a simple summary of the pattern in genetic data. This article shows how to use them in exploratory data analysis.