wQFM-DISCO: DISCO-enabled wQFM improves phylogenomic analyses despite the presence of paralogs.

Abstract

Motivation: Gene trees often differ from the species trees that contain them due to various factors, including incomplete lineage sorting (ILS) and gene duplication and loss (GDL). Several highly accurate species tree estimation methods have been introduced to explicitly address ILS, including ASTRAL, a widely used statistically consistent method, and wQFM, a quartet amalgamation approach experimentally shown to be more accurate than ASTRAL. Two recent advancements, ASTRAL-Pro and DISCO, have emerged in phylogenomics to consider GDL. ASTRAL-Pro introduces a refined quartet similarity measure, accounting for orthology and paralogy. On the other hand, DISCO offers a general strategy to decompose multi-copy gene trees into a collection of single-copy trees, allowing the utilization of methods previously designed for species tree inference in the context of single-copy gene trees.

Results: In this study, we first introduce some variants of DISCO to examine its underlying hypotheses and present analytical results on the statistical guarantees of DISCO. In particular, we introduce DISCO-R, a variant of DISCO with a refined and improved pruning strategy that provides more accurate and robust results. We then demonstrate with extensive evaluation studies on a collection of simulated and real data sets that wQFM paired with DISCO variants consistently matches or outperforms ASTRAL-Pro and other competing methods.

Availability and implementation: DISCO-R and other variants are freely available at https://github.com/skhakim/DISCO-variants.