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Published on: August 14, 2018
Short Tree, Long Tree, Right Tree, Wrong Tree: New Acquisition Bias Corrections for Inferring SNP Phylogenies.
Adam D Leaché1, Barbara L Banbury2, Joseph Felsenstein3
1Department of Biology, University of Washington, Seattle, WA 98195, USA; Burke Museum of Natural History and Culture, University of Washington, Seattle, WA 98195, USA; leache@uw.edu.
Analyzing Restriction site associated DNA sequencing (RADseq) data for phylogenetic studies, this research finds that using full sequences, including invariant sites, improves accuracy over single nucleotide polymorphisms (SNPs) alone. New bias correction methods are also introduced for SNP-only analyses.
Area of Science:
- Genomics
- Evolutionary Biology
- Bioinformatics
Background:
- Single nucleotide polymorphisms (SNPs) are valuable genomic markers for phylogenetic studies due to their abundance and ease of collection.
- Restriction site associated DNA sequencing (RADseq) is a popular method for collecting SNP data, but best practices for its phylogenetic application require further investigation.
Purpose of the Study:
- To assess the accuracy of RAD loci for phylogenetic inference using computer simulations and empirical double digest RADseq (ddRADseq) data from the lizard family Phrynosomatidae.
- To compare phylogenetic analysis using full RAD sequences versus SNP data alone.
- To introduce and evaluate new methods for correcting acquisition bias in SNP-only phylogenetic analyses.
Main Methods:
- Computer simulations were used to test phylogenetic accuracy under different data partitioning strategies.
- Double digest RADseq (ddRADseq) data were generated for the lizard family Phrynosomatidae.
- Phylogenetic analyses compared the use of full RAD loci (SNPs and invariant sites) versus SNP data only.
- Two novel acquisition bias correction methods were developed: a conditional likelihood method and a reconstituted DNA approach.
Main Results:
- Using full RAD sequences, including invariant sites, resulted in superior branch length and topological accuracy compared to using SNPs alone.
- Both conditional likelihood and reconstituted DNA bias correction methods showed improved branch length accuracy, with the reconstituted DNA approach performing better, especially with increased missing data.
- Phylogenetic analyses of empirical Phrynosomatidae data using concatenation and coalescent-based species tree methods supported established relationships, indicating RAD loci contain robust phylogenetic signal.
Conclusions:
- Phylogenetic analyses using full RAD loci sequences are preferable to SNP-only analyses for improved accuracy.
- The reconstituted DNA approach offers a promising method for correcting bias in SNP-only RADseq phylogenetics.
- Careful consideration of model assumptions is crucial for accurate phylogenetic inference from RAD loci, particularly when branch lengths are important.
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Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...

