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Biology subjects

Soto Gomez, M.

Publications and source records attributed to Soto Gomez, M..

7 recordsLinked to original sources

Managing the genetic diversity of Dioscorea yams for adaptation to climate change

Understanding adaptation to environmental variation is fundamental to climate-resilient agriculture. Here, we analyzed a georeferenced collection of 167 Dioscorea accessions spanning a wide range of bioclimatic and biophysical variation, from dry sahelian environment to rainforest environment. Genome-wide association analyses revealed that the genetic architecture of environmental adaptation is largely driven by large-effect loci, although precipitation-related traits were associated with many small-effect loci. This mixed architecture could lead to multiple breeding strategies, including marker-assisted backcrossing and the targeted use of wild and semi-wild relatives. We identified a core collection of accessions that captures much of the genetic and environmental diversity, and highlighted accessions as potential parents for abiotic stress tolerance. Projections under future climate scenarios using genomic offset identified regions and accessions at elevated risk of maladaptation, as well as others with broad adaptive potentiality. Maximizing the use of available material may facilitate the development of climate-resilient cultivars.

plant biology↗

Placing very long branch taxa in the plant tree of life: a case study with Dioscoreales mycoheterotrophs

PremiseThe inclusion of heterotrophic plants in broadly focused systematic studies is challenging, reflecting substantial morphological modification, gene loss, and accelerated nucleotide substitution following photosynthesis loss. In particular, inclusion of very long branch (VLB) taxa with highly elevated rates may lead to phylogenomic misinference. MethodsWe explore how rapidly evolving plastomes behave in model-based phylogenetic inferences of the yam order Dioscoreales, which experienced convergent photosynthesis losses. The taxon sampling includes all photosynthetic genera, and mycoheterotrophic lineages with a broad range of substitution rates. ResultsWhen only moderately rapidly evolving heterotrophs are included, relationships within Dioscoreales are congruent with recent mitochondrial analysis, and generally strongly supported. Photosynthetic Stenomeris (represented by only three genes) is moderately supported as sister to Dioscoreaceae. Notably, Burmanniaceae and Thismiaceae, two mycoheterotrophic families including highly reduced plastomes, are strongly supported as distantly related within Dioscoreales. Constrained analysis rejects combining Thismiaceae with Burmanniaceae, conflicting with current angiosperm classification. Including VLB mycoheterotrophs in phylogenetic inference can lead to localized to broad reduction in branch support--substantially so for Afrothismiaceae, a family placing in disparate locations in Dioscoreales (and beyond) in variant analyses, with no ability to differentiate among its alternative placements. ConclusionsInclusion of highly rate-elevated taxa in analyses of Dioscoreales phylogeny can depress branch support. Inferred relationships in the order are otherwise congruent with studies based on mitochondrial data; the family-level classification needs updating. The extraordinarily rapidly evolving family Afrothismiaceae places inconsistently in diverse plastid analyses, pointing to probable analytical limits for plastid-based phylogenomic analyses of VLB heterotrophs.

evolutionary biology↗

Replacing non-biomedical concepts improves embedding of biomedical concepts

ObjectivesConcept embeddings are low-dimensional vector representations of concepts such as MeSH:D009203 (Myocardial Infarction), whose similarity in the embedded vector space reflects their semantic similarity. Here, we test the hypothesis that non-biomedical concept synonym replacement can improve the quality of biomedical concepts embeddings. Materials and methodsWe developed an approach that leverages WordNet to replace sets of synonyms with the most common representative of the synonym set. ResultsWe tested our approach on 1055 concept sets and found that, on average, the mean intracluster distance was reduced by 8% in the vector-space. Assuming that homophily of related concepts in the vector space is desirable, our approach tends to improve the quality of embeddings. Discussion and ConclusionThis pilot study shows that non-biomedical synonym replacement tends to improve the quality of embeddings of biomedical concepts using the Word2Vec algorithm. We have implemented our approach in a freely available Python package available at https://github.com/TheJacksonLaboratory/wn2vec.

bioinformatics↗

Intrinsic-Dimension analysis for guiding dimensionality reduction and data fusion in multi-omics data processing

The advent of high-throughput sequencing technologies has revolutionized the field of multi-omics patient data analysis. While these techniques offer a wealth of information, they often generate datasets with dimensions far surpassing the number of available cases. This discrepancy in size gives rise to the challenging "small-sample-size" problem, significantly compromising the reliability of any subsequent estimate, whether supervised or unsupervised. This calls for effective dimensionality reduction techniques to transform high-dimensional datasets into lower-dimensional spaces, making the data manageable and facilitating subsequent analyses. Unfortunately, the definition of a proper di-mensionality reduction pipeline is not an easy task; besides the problem of identifying the best dimensionality reduction method, the definition of the dimension of the lower-dimensional space into which each dataset should be transformed is a crucial issue that influences all the subsequent analyses and should therefore be carefully considered. Further, the availability of multi-modal data calls for proper data-fusion techniques to produce an integrated patient-view into which redundant information is removed while salient and complementary information across views is leveraged to improve the performance and reliability of both unsupervised and supervised learning techniques. This paper proposes leveraging the intrinsic dimensionality of each view in a multi-modal dataset to define the dimensionality of the lower-dimensional space where the view is transformed by dimensionality reduction algorithms. Further, it presents a thorough experimental study that compares the traditional application of a unique-step of dimensionality reduction with a two-step approach, involving a prior feature selection followed by feature extraction. Through this comparative evaluation, we scrutinize the performance of widely used dimensionality reduction algorithms. Importantly, we also investigate their impact on unsupervised data-fusion techniques, which are pivotal in biomedical research. Our findings shed light on the most effective strategies for handling high-dimensional multi-omics patient data, offering valuable insights for future studies in this domain. Graphical Abstract O_FIG O_LINKSMALLFIG WIDTH=159 HEIGHT=200 SRC="FIGDIR/small/576822v1_ufig1.gif" ALT="Figure 1"> View larger version (56K): org.highwire.dtl.DTLVardef@c39539org.highwire.dtl.DTLVardef@79f681org.highwire.dtl.DTLVardef@1269fcforg.highwire.dtl.DTLVardef@c5e31d_HPS_FORMAT_FIGEXP M_FIG C_FIG HighlightsO_LIWe introduce a flexible pipeline to guide in a principled way feature selection and feature extraction methods to reduce the high dimensions and to contrast the curse of dimensionality that affects multi-omics data. C_LIO_LIWe harness the power of cutting-edge Intrinsic Dimensionality (id) estimation through block-analysis, providing an unbiased estimation of the individual ids for each view within a multi-modal dataset. C_LIO_LIWe use an exhaustive set of diverse multi-omics cancer datasets from the well-known TCGA dataset to show that the automatic analysis of the distribution of the block-ids characterizing each omics-view leverages dimensionality reduction, by (1) evidencing feature noise and redundancy, and (2) providing an unbiased estimate of the id for each view, to be used for setting the dimension of the reduced space. This avoids empirical or heuristic choices and allows tailoring the reduction to each data-view. C_LIO_LIThe crucial information gained by block-analysis allowed proposing a two-step dimensionality-reduction approach combining feature selection and feature extraction. Our comparative evaluation shows the effectiveness of the proposed technique and its synergy with state-of-the-art data-fusion techniques applied in a multi-omics context. C_LIO_LIWe show that the proposed reduction pipeline leverages traditional dimensionality reduction and state-of-the-art data-fusion algorithms. Indeed, it obtains effective performance when predicting overall survival events with simple random forest classifiers, often preferred in the biomedical field due to their robustness, efficiency, and interpretable nature. C_LI

bioinformatics↗

Introduced crops supplement rather than replace indigenous crops in an African center of agrobiodiversity

O_LICrop diversity plays a major role in underpinning food security. It is especially important to smallholder and subsistence farmers, who often rely on crop diversity for stable and resilient production. Despite this, global expansion of a small pool of major crops and the associated homogenisation of global agricultural systems may decrease on-farm crop diversity. C_LIO_LIWe surveyed 1,369 subsistence farms stratified across climate gradients in the Ethiopian Highlands, to characterise the richness and cultivated area of the 83 edible crops they contained. We further categorise these crops by their period of introduction to Ethiopia. We apply non-metric multidimensional scaling and mixed effects modelling to characterise agrisystem composition and test the impact of crop introductions. C_LIO_LIWe find a significant positive relationship between introduced and indigenous crop richness, suggesting that crop introductions have tended to supplement rather than replace or reduce indigenous crop diversity. Geographically matched farms with higher proportions of introduced crops, had significantly higher overall crop richness. Analysis of socio-economic drivers indicates that both poverty and low accessibility are associated with reduced cultivation of modern introductions. C_LIO_LIWe conclude that global patterns of major crop expansion do not necessarily result in agrobiodiversity loss for subsistence farmers, in our Ethiopian case study. Importantly, socioeconomic factors may strongly influence the farmers propensity to adopt novel species, suggesting targets for agricultural extension policies. Given the rapid climatic, economic and demographic changes impacting global food systems and the threats to food security these entail, robust indigenous agricultural systems supplemented with diverse introduced crops may enhance resilience. C_LI

ecology↗

gpps: An ILP-based approach for inferringcancer progression with mutation losses fromsingle cell data

MotivationIn recent years, the well-known Infinite Sites Assumption (ISA) has been a fundamental feature of computational methods devised for reconstructing tumor phylogenies and inferring cancer progression where mutations are accumulated through histories. However, some recent studies leveraging Single Cell Sequencing (SCS) techniques have shown evidence of mutation losses in several tumor samples [19], making the inference problem harder.\n\nResultsWe present a new tool, gpps, that reconstructs a tumor phylogeny from single cell data, allowing each mutation to be lost at most a fixed number of times.\n\nAvailabilityThe General Parsimony Phylogeny from Single cell (gpps) tool is open source and available at https://github.com/AlgoLab/gppf.

cancer biology↗

Inferring Cancer Progression from Single Cell Sequencing while allowing loss of mutations

MotivationIn recent years, the well-known Infinite Sites Assumption (ISA) has been a fundamental feature of computational methods devised for reconstructing tumor phylogenies and inferring cancer progressions seen as an accumulation of mutations. However, recent studies (Kuipers et al., 2017) leveraging Single-cell Sequencing (SCS) techniques have shown evidence of the widespread recurrence and, especially, loss of mutations in several tumor samples. Still, established methods that can infer phylogenies with mutation losses are however lacking.\n\nResultsWe present the SASC (Simulated Annealing Single-Cell inference) tool which is a new and robust approach based on simulated annealing for the inference of cancer progression from SCS data. More precisely, we introduce a simple extension of the model of evolution where mutations are only accumulated, by allowing also a limited amount of back mutations in the evolutionary history of the tumor: the Dollo-k model. We demonstrate that SASC achieves high levels of accuracy when tested on both simulated and real data sets and in comparison with some other available methods.\n\nAvailabilityThe Simulated Annealing Single-cell inference (SASC) tool is open source and available at https://github.com/sciccolella/sasc.\n\nContacts.ciccolella@campus.unimib.it

bioinformatics↗