Recent studies have demonstrated that conflict is common among gene trees in phylogenomic studies, and that less than one percent of genes may ultimately drive species tree inference in supermatrix analyses. Herein, we examined two data sets where supermatrix and coalescent-based species trees conflict. We identified two highly influential "outlier" genes in each data set. When removed from each data set, the inferred supermatrix trees matched the topologies obtained from coalescent analyses. We also demonstrate that, while the outlier genes in the vertebrate data set have been shown in a previous study to be the result of errors in orthology detection, the outlier genes from a plant data set did not exhibit any obvious systematic error, and therefore, may be the result of some biological process yet to be determined. While topological comparisons among a small set of alternate topologies can be helpful in discovering outlier genes, they can be limited in several ways, such as assuming all genes share the same topology. Coalescent species tree methods relax this assumption but do not explicitly facilitate the examination of specific edges. Coalescent methods often also assume that conflict is the result of incomplete lineage sorting. Herein, we explored a framework that allows for quickly examining alternative edges and support for large phylogenomic data sets that does not assume a single topology for all genes. For both data sets, these analyses provided detailed results confirming the support for coalescent-based topologies. This framework suggests that we can improve our understanding of the underlying signal in phylogenomic data sets by asking more targeted edge-based questions.
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Mol Ecol
January 2025
Institute of Freshwater Research, Department of Aquatic Resources (SLU Aqua), Swedish University of Agricultural Sciences, Drottningholm, Sweden.
How genetic variation contributes to adaptation at different environments is a central focus in evolutionary biology. However, most free-living species still lack a comprehensive understanding of the primary molecular mechanisms of adaptation. Here, we characterised the targets of selection associated with drastically different aquatic environments-humic and clear water-in the common freshwater fish, Eurasian perch (Perca fluviatilis).
View Article and Find Full Text PDFNat Commun
January 2025
Institute of Systems and Physical Biology, Shenzhen Bay Laboratory, Shenzhen, China.
Although rare non-coding variants (RVs) play crucial roles in complex traits and diseases, understanding their mechanisms and identifying disease-associated RVs continue to be major challenges. Here we constructed a comprehensive atlas of alternative polyadenylation (APA) outliers (aOutliers), including 1334 3' UTR and 200 intronic aOutliers, from 15,201 samples across 49 human tissues. These aOutliers exhibit unique characteristics from transcription or splicing outliers, with a pronounced RV enrichment.
View Article and Find Full Text PDFmedRxiv
January 2025
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.
RNA-sequencing has improved the diagnostic yield of individuals with rare diseases. Current analyses predominantly focus on identifying outliers in single genes that can be attributed to cis-acting variants within the gene locus. This approach overlooks causal variants with trans-acting effects on splicing transcriptome-wide, such as variants impacting spliceosome function.
View Article and Find Full Text PDFPlants (Basel)
December 2024
Institute of Biosciences and Bioresources, National Research Council, Via Amendola 165/A, 70126 Bari, Italy.
is a complex species incorporating a great variety of vegetable types, including cabbage, cauliflower, broccoli, kale, and others. Southern Italy, and especially the Puglia region, is rich in landraces. In this study, genotyping-by-sequencing (GBS) was applied to a germplasm panel of 82 samples, mostly landraces and some commercial varieties, belonging to various morphotypes of .
View Article and Find Full Text PDFNeurol Sci
January 2025
Department of Neurosurgery & Brain and Nerve Research Laboratory, The First Affiliated Hospital of Soochow University, Suzhou, Jiangsu Province, China.
Background And Objective: Numerous studies suggest that the development of Alzheimer's Disease (AD) leads to a reduction in overall hippocampal volume. However, there is limited research exploring whether pre-morbid differences in hippocampal volume impact the risk of AD. This study aims to delve into the causal relationship between hippocampal subregional volume and AD using bidirectional Mendelian Randomization (MR) methods.
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