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- Andonov, Sreten
(författare)
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Modeling honey yield, defensive and swarming behaviors of Italian honey bees (Apis mellifera ligustica) using linear-threshold approaches
- 2019
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Ingår i: BMC genomic data. - : Springer Science and Business Media LLC. - 2730-6844 .- 1471-2156. ; 20
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Tidskriftsartikel (refereegranskat)abstract
- Background: Genetic improvement of honey bees is more difficult compared to other livestock, due to the very different reproductive behavior. Estimation of breeding values requires specific adjustment and the use of sires in the pedigree is only possible when mating of queens and drones is strictly controlled. In the breeding program of the National Registry for Italian Queen Breeders and Bee Producers the paternal contribution is mostly unknown. As stronger modeling may compensate for the lack of pedigree information, we tested two models that differed in the way the direct and maternal effects were considered. The two models were tested using 4003 records for honey yield, defensive and swarming behaviors of Italian honey bee queens produced between 2002 and 2014. The first model accounted for the direct genetic effect of worker bees and the genetic maternal effect of the queen, whereas model 2 considered the direct genetic effect of the queen without maternal effect. The analyses were performed by linear (honey production) and threshold (defensive and swarming behavior) single-trait models; estimated genetic correlations among traits were obtained by a three-trait linear-threshold model. Results: For all traits, the highest predictability (correlation between breeding values estimated with and without performance records) was obtained with model 2, where direct genetic effect of queens was considered. With this model, heritability estimates were 0.26 for honey yield, 0.36 for defensive behavior, and 0.34 for swarming behavior. Multi-trait estimation resulted in similar or higher heritability estimates for all traits. A low, positive genetic correlation (0.19) was found between honey yield and defensive behavior, whereas the genetic correlation between honey yield and swarming behavior was moderate (0.41). A strong, positive genetic correlation was found between defensive and swarming behaviors (0.62). Predictability for multi-trait evaluations was higher for honey yield (0.46) and defensive behavior (0.30) but almost identical for swarming behavior (0.45) compared to corresponding single-trait predictability. Conclusions: Multi-trait evaluation using a model that accounts for the direct genetic effect of queen was the best approach for breeding value estimation of Italian honey bees. The results suggest a new direction for selection of linear and categorical traits in breeding programs where drone origin is unknown.
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- Hayatgheibi, Haleh, et al.
(författare)
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Implications of accounting for marker-based population structure in the quantitative genetic evaluation of genetic parameters related to growth and wood properties in Norway spruce
- 2024
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Ingår i: BMC Genomic Data. - : BioMed Central Ltd. - 2730-6844. ; 25:1
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Tidskriftsartikel (refereegranskat)abstract
- Background: Forest geneticists typically use provenances to account for population differences in their improvement schemes; however, the historical records of the imported materials might not be very precise or well-aligned with the genetic clusters derived from advanced molecular techniques. The main objective of this study was to assess the impact of marker-based population structure on genetic parameter estimates related to growth and wood properties and their trade-offs in Norway spruce, by either incorporating it as a fixed effect (model-A) or excluding it entirely from the analysis (model-B). Results: Our results indicate that models incorporating population structure significantly reduce estimates of additive genetic variance, resulting in substantial reduction of narrow-sense heritability. However, these models considerably improve prediction accuracies. This was particularly significant for growth and solid-wood properties, which showed to have the highest population genetic differentiation (QST) among the studied traits. Additionally, although the pattern of correlations remained similar across the models, their magnitude was slightly lower for models that included population structure as a fixed effect. This suggests that selection, consistently performed within populations, might be less affected by unfavourable genetic correlations compared to mass selection conducted without pedigree restrictions. Conclusion: We conclude that the results of models properly accounting for population structure are more accurate and less biased compared to those neglecting this effect. This might have practical implications for breeders and forest managers where, decisions based on imprecise selections can pose a high risk to economic efficiency.
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- Lankheet, Imke, et al.
(författare)
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The performance of common SNP arrays in assigning African mitochondrial haplogroups
- 2021
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Ingår i: BMC GENOMIC DATA. - : BioMed Central (BMC). - 2730-6844. ; 22:1
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Tidskriftsartikel (refereegranskat)abstract
- Background Mitochondrial haplogroup assignment is an important tool for forensics and evolutionary genetics. African populations are known to display a high diversity of mitochondrial haplogroups. In this research we explored mitochondrial haplogroup assignment in African populations using commonly used genome-wide SNP arrays. Results We show that, from eight commonly used SNP arrays, two SNP arrays outperform the other arrays when it comes to the correct assignment of African mitochondrial haplogroups. One array enables the recognition of 81% of the African mitochondrial haplogroups from our compiled dataset of full mitochondrial sequences. Other SNP arrays were able to assign 4-62% of the African mitochondrial haplogroups present in our dataset. We also assessed the performance of available software for assigning mitochondrial haplogroups from SNP array data. Conclusions These results provide the first cross-checked quantification of mitochondrial haplogroup assignment performance from SNP array data. Mitochondrial haplogroup frequencies inferred from most common SNP arrays used for human population analysis should be considered with caution.
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- Llinàs-Arias, Pere, et al.
(författare)
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3-D chromatin conformation, accessibility, and gene expression profiling of triple-negative breast cancer
- 2023
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Ingår i: BMC Genomic Data. - : Springer Nature. - 2730-6844. ; 24:1
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Tidskriftsartikel (refereegranskat)abstract
- Objectives: Triple-negative breast cancer (TNBC) is a highly aggressive breast cancer subtype with limited treatment options. Unlike other breast cancer subtypes, the scarcity of specific therapies and greater frequencies of distant metastases contribute to its aggressiveness. We aimed to find epigenetic changes that aid in the understanding of the dissemination process of these cancers. Data description: Using CRISPR/Cas9, our experimental approach led us to identify and disrupt an insulator element, IE8, whose activity seemed relevant for cell invasion. The experiments were performed in two well-established TNBC cellular models, the MDA-MB-231 and the MDA-MB-436. To gain insights into the underlying molecular mechanisms of TNBC invasion ability, we generated and characterized high-resolution chromatin interaction (Hi-C) and chromatin accessibility (ATAC-seq) maps in both cell models and complemented these datasets with gene expression profiling (RNA-seq) in MDA-MB-231, the cell line that showed more significant changes in chromatin accessibility. Altogether, our data provide a comprehensive resource for understanding the spatial organization of the genome in TNBC cells, which may contribute to accelerating the discovery of TNBC-specific alterations triggering advances for this devastating disease.
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- Pelosi, Benedetta, 1990-
(författare)
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Developing a bioinformatics pipeline for comparative protein classification analysis
- 2022
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Ingår i: BMC Genomic Data. - : Springer Science and Business Media LLC. - 2730-6844. ; 23
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Tidskriftsartikel (refereegranskat)abstract
- Background: Protein classification is a task of paramount importance in various fields of biology. Despite the great momentum of modern implementation of protein classification, machine learning techniques such as Random Forest and Neural Network could not always be used for several reasons: data collection, unbalanced classification or labelling of the data.As an alternative, I propose the use of a bioinformatics pipeline to search for and classify information from protein databases. Hence, to evaluate the efficiency and accuracy of the pipeline, I focused on the carotenoid biosynthetic genes and developed a filtering approach to retrieve orthologs clusters in two well-studied plants that belong to the Brassicaceae family: Arabidopsis thaliana and Brassica rapa Pekinensis group. The result obtained has been compared with previous studies on carotenoid biosynthetic genes in B. rapa where phylogenetic analysis was conducted.Results: The developed bioinformatics pipeline relies on commercial software and multiple databeses including the use of phylogeny, Gene Ontology terms (GOs) and Protein Families (Pfams) at a protein level. Furthermore, the phylogeny is coupled with “population analysis” to evaluate the potential orthologs. All the steps taken together give a final table of potential orthologs. The phylogenetic tree gives a result of 43 putative orthologs conserved in B. rapa Pekinensis group. Different A. thaliana proteins have more than one syntenic ortholog as also shown in a previous finding (Li et al., BMC Genomics 16(1):1–11, 2015).Conclusions: This study demonstrates that, when the biological features of proteins of interest are not specific, I can rely on a computational approach in filtering steps for classification purposes. The comparison of the results obtained here for the carotenoid biosynthetic genes with previous research confirmed the accuracy of the developed pipeline which can therefore be applied for filtering different types of datasets.
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- Yildirim, Yeserin, et al.
(författare)
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How well do genetic markers inform about responses to intraspecific admixture? : A comparative analysis of microsatellites and RADseq
- 2021
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Ingår i: BMC Genomic Data. - : BioMed Central (BMC). - 2730-6844. ; 22:1
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Tidskriftsartikel (refereegranskat)abstract
- Background Fitness consequences of intraspecific genetic admixture can vary from positive to negative depending on the genetic composition of the populations and environmental conditions. Because admixture has potential to influence the success of management and conservation efforts, genetic similarity has been suggested to be used as a proxy to predict the outcome. Studies utilizing microsatellites (a neutral marker) to investigate associations between genetic distance and admixture effects show conflicting results. Marker types that yield information on genome-wide and/or adaptive variation might be more useful for predicting responses to inter-population hybridization. In this study we utilized published data for three populations of pike (Esox lucius) to investigate associations between offspring performance (hatching success) and parental genetic similarity in experimentally purebred and admixed families, based on neutral (microsatellites), genome-wide neutral (RADseq SNPs), and adaptive (SNPs under selection) markers. Results Estimated similarity varied among the markers, likely reflecting differences in their inherent properties, but was consistently higher in purebred than admixed families. A significant interaction between marker type and admixture treatment reflected that neutral SNPs yielded higher estimates than adaptive SNPs for admixed families whereas no difference was found for purebred families, which indicates that neutral similarity was not reflective of adaptive similarity. When all samples were pooled, no association between similarity and performance was found for any marker. For microsatellites, similarity was positively correlated with hatching success in purebred families, whereas no association was found in admixed families; however, the direction of the effect differed between the population combinations. Conclusions The results strengthen the notion that, as of today, there is no proxy that can reliably predicted the outcome of admixture. This emphasizes the need of further studies to advance knowledge that can shed light on how to safeguard against negative consequences of admixture, and thereby inform management and promote conservation of biological diversity.
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