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Discipline 10 of 18 28 Tools Stage 10: Evolutionary History & Cohort Association

🌿 10. Phylogenetics, Population Genetics & GWAS Fine-Mapping

Ancestry estimation, linkage disequilibrium calculation, complex trait association testing, demographic history modeling, and maximum likelihood phylogenetic tree reconstruction.

Essential Software: ADMIXTURE PLINK 2 fineSTRUCTURE IQ-TREE 2 RAxML-NG FastTree
Comparative Analysis Production Benchmarks

Algorithm Architecture & Decision Matrices

Detailed comparison cards highlighting algorithmic trade-offs, strengths, weaknesses, and recommended production setups.

Phylogenetic Reconstruction
IQ-TREE 2 RAxML-NG FastTree BEAST 2 MAFFT Nextstrain / Augur
Maximum likelihood trees, ultra-fast bootstrap (UFBoot), Bayesian molecular clock, pathogen tracking.
Population Structure & Demography
PLINK 1.9 / 2.0 ADMIXTURE smartpca (EIGENSOFT) ANGSD TreeMix SHAPEIT5 / Beagle
Principal component analysis (PCA), ancestry fractions, low-depth genotype likelihoods, haplotype phasing.
GWAS, PRS & Fine-Mapping
REGENIE SAIGE BOLT-LMM LDSC SuSiE FINEMAP PRS-CS
Biobank-scale mixed model association testing, link disequilibrium score regression, causal variant credible sets.
Hardware & Execution Profiles

Primary Software & Algorithms in Population Genetics & Phylogenetics

Direct command-line recipes, Conda environment specifications, memory footprints, and license metadata.

Maximum-Likelihood Phylogeny
💻 16-32GB RAM C++ • OpenMP / AVX

IQ-TREE 2

Docs ↗ By Bui Quang Minh et al. (ANU / Vienna)
(License: GPL-2.0)

Efficient and versatile phylogenomic software with ultrafast bootstrap approximation (UFBoot2), automated substitution model selection (ModelFinder), and ancestral state reconstruction.

Formats: Input: Multiple Alignment (FASTA, PHYLIP, NEXUS) • Output: Newick Tree (.treefile)
💻 8-16 CPU Cores • 8-32 GB RAM
conda install -c bioconda iqtree
Scalable ML Tree Inference
💻 16-32GB RAM C++ • Vectorized Tree Search

RAxML-NG

Docs ↗ By Alexey Kozlov & Alexandros Stamatakis (HITS)
(License: AGPL-3.0)

Fast and scalable maximum-likelihood phylogenetic tree inference tool designed for massive phylogenomic datasets, handling thousands of concatenated genes across hundreds of taxa.

Formats: Input: FASTA, PHYLIP, Partition files • Output: Best ML Tree (Newick)
💻 16 CPU Cores • 16-32 GB RAM
conda install -c bioconda raxml-ng
Comparative Orthology & Phylogenomics
🚀 32GB+ RAM Python • DIAMOND / FastME

OrthoFinder

Docs ↗ By David Emms & Steve Kelly (Oxford)
(License: GPL-3.0)

High-accuracy comparative genomics platform for orthogroup inference, gene duplication event dating, gene tree-species tree reconciliation, and rooted species tree estimation.

Formats: Input: Proteome FASTA files • Output: Orthogroups.tsv, SpeciesTree_rooted.txt
💻 16-32 CPU Cores • 32-64 GB RAM
conda install -c bioconda orthofinder
Bayesian Evolutionary Analysis
💻 16-32GB RAM Java • MCMC Sampler

BEAST 2

Docs ↗ By Remco Bouckaert et al. (Auckland)
(License: LGPL-2.1)

Bayesian evolutionary analysis sampling trees using Markov chain Monte Carlo (MCMC). Estimates rooted time-measured phylogenies, strict and relaxed molecular clock rates, and demographic history.

Formats: Input: XML configuration (BEAUti) • Output: .trees, .log (Tracer)
💻 8-16 CPU Cores • 16-32 GB RAM • BEAGLE GPU library
conda install -c bioconda beast2
Ultra-Rapid Approximate ML
💻 < 8GB RAM C • OpenMP

FastTree

Docs ↗ By Morgan Price (LBNL)
(License: GPL-2.0)

Infers approximately-maximum-likelihood phylogenetic trees from huge alignments of nucleotide or protein sequences (up to millions of taxa) in minutes rather than days.

Formats: Input: FASTA, PHYLIP alignment • Output: Newick Tree
💻 4-8 CPU Cores • 8-16 GB RAM
conda install -c bioconda fasttree
Phylogenetic Data Visualization
💻 < 8GB RAM R • Bioconductor • ggplot2

ggtree & treeio

Docs ↗ By Guangchuang Yu (SMU)
(License: Artistic-2.0)

Grammar of graphics framework for visualizing and annotating phylogenetic trees with complex genomic data, trait matrices, multiple sequence alignments, and ancestral node states.

Formats: Input: Newick, Nexus, beast, raxml output • Output: Publication-ready figures
💻 2-4 CPU Cores • 4-8 GB RAM
R -e 'BiocManager::install("ggtree")'
Recommended Workflow Progression

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