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1,023 results for “Copy Number”
Data from: The fire ant social supergene is characterized by extensive gene and transposable element copy number variation
In the fire ant Solenopsis invicta, a supergene composed of ~600 genes and having two variants, SB and Sb, regulates colony social form. In single queen colonies all individuals carry only the SB allele, while in multiple queen colonies, some individuals carry the Sb allele. In this study we characterized genes with copy number variation between SB and Sb-carrying individuals. We showed extensive acquisition of gene duplicates in Sb genome, with some likely involved in polygyne-related phenotypes. We found 260 genes with differences in copy number between SB and Sb, of which 239 are in greater copy number in Sb. We observed TE accumulation on Sb, likely due to the accumulation of repetitive elements on the non-recombining chromosome. We found a weak correlation between TE copy number and differential expression, suggesting some TEs may still be proliferating in Sb, however many of the duplicated TEs were already silenced. Among the 115 non-TE genes with higher copy in Sb, enzymes responsible for cuticular hydrocarbon synthesis were highly represented. These include a desaturase and an elongase; both potentially responsible for differential queen odor and likely beneficial for polygyne ants. These genes seem to have translocated into the supergene from other chromosomes and proliferated by multiple duplication events. While the presence of transposable elements (TEs) in supergenes is well documented, little is known about duplication of non-TE genes and their possible adaptive role. Overall, our results suggest that gene duplications may be an important factor leading to monogyne and polygyne ant societies.
UCSC Xena Data Browser Copy Number Data - Genes (Thresholded)
<p>Downloaded by Gregory Way from the UCSC Xena data browser on 14 July 2017</p> <p>https://xenabrowser.net/datapages/?dataset=TCGA.PANCAN.sampleMap/Gistic2_CopyNumber_Gistic2_all_thresholded.by_genes&host=https://tcga.xenahubs.net</p>
ChromoPhyloGen: characterizing copy number alteration patterns in heterogeneous tumor cell populations at Single-Cell Resolution
<p>The human liver cancer cell line Huh7 was obtained from the American Type Culture Collection (ATCC). Huh7 cells were cultivated in Dulbecco's Modified Eagle Medium (DMEM, Gibco, C11995), supplemented with 1% penicillin/streptomycin (Gibco, 15140122), and 10% fetal bovine serum (FBS, Excell, FSP500). Huh7 cell line was maintained under a 95% O2 and 5% CO2 humidified atmosphere in an incubator at 37˚C. </p> <p>The scDNA-seq library was performed using the Chromium Single cell DNA Library & Gel Bead kit (10x Genomics, PN1000040) in combination with the Chromium instrument. The samples were processed on Chromium Single cell Chip C and D (10x Genomics, 1000022 and 1000042, respectively) according to the manufacturer's user guide and subsequently run on a thermocycler. The barcoded libraries were sequenced using the Novaseq 6000 300 cycle high-output flow cells.</p> <p>The scRNA-seq library was generated using the 10x Genomics Chromium Single Cell 3' & Gel Bead Kit v3 (10x Genomics, PN100075) in combination with the Chromium instrument. The samples were processed on Chromium Single cell Chip B (10x Genomics,1000154) according to the manufacturer's protocol and subsequently run on a thermocycler. The 3' gene expression libraries were sequenced using the Novaseq 6000 300 cycle high-output flow cells.</p> <p> </p>
Convergent evolution and predictability of gene copy numbers associated with diets in mammals
<p>Convergent evolution, the evolution of the same or similar phenotypes in phylogenetically independent lineages, is a widespread phenomenon in nature. If the genetic basis for convergent evolution is predictable to some extent, it may be possible to infer organismic phenotypes and adaptability based on genome sequence data. While repeated amino acid changes have been studied in association with convergent evolution, relatively little is known about the potential contribution of repeated gene copy number changes. In this study, we explore whether certain gene copy number changes are linked to diet shifts in mammals and assess if trophic ecology can be inferred from the copy numbers of a specific set of genes. Using 86 mammalian genome sequences, we identified several genes with higher copy numbers in herbivores, carnivores, and omnivores, even after phylogenetic corrections. We were able to confirm previous findings on genes such as amylase, olfactory receptor, and xenobiotic metabolism genes, and identify novel genes whose copy numbers correlate with dietary patterns. For example, omnivores exhibited higher copy numbers of genes encoding gene expression regulators. We also established a discriminant function based on the copy numbers of 13 genes that can help predict trophic ecology based on genome sequence data. These findings highlight a possible association between convergent evolution and repeated copy number changes in specific genes, suggesting the potential to develop a method for predicting animal ecology and adaptability from genome sequence data.</p>
Data from: Digital PCR quantification of ultrahigh ERBB2 copy number identifies poor breast cancer survival after trastuzumab
<p>HER2/ERBB2 evaluation is necessary for treatment decision-making in breast cancer (BC), however current methods have limitations and considerable variability exists. DNA copy number (CN) evaluation by droplet digital PCR (ddPCR) has complementary advantages for HER2/ERBB2 diagnostics. In this study, we developed a single-reaction multiplex ddPCR assay for determination of ERBB2 CN in reference to two control regions, CEP17 and a copy-number-stable region of chr. 2p13.1, validated CN estimations to clinical in situ hybridization (ISH) HER2 status, and investigated the association of ERBB2 CN with clinical outcomes. 909 primary BC tissues were evaluated and the area under the curve for concordance to HER2 status was 0.93 and 0.96 for ERBB2 CN using either CEP17 or 2p13.1 as reference, respectively. The accuracy of ddPCR ERBB2 CN was 93.7% and 94.1% in the training and validation groups, respectively. Positive and negative predictive value for the classic HER2 amplification and non-amplification groups was 97.2% and 94.8%, respectively. An identified biological "ultrahigh" ERBB2 ddPCR CN group had significantly worse survival within patients treated with adjuvant trastuzumab for both recurrence-free survival (hazard ratio, HR: 3.3; 95% CI 1.1–9.6; <em>p</em> = 0.031, multivariable Cox regression) and overall survival (HR: 3.6; 95% CI 1.1–12.6; <em>p</em> = 0.041). For validation using RNA-seq data as a surrogate, in a population-based SCAN-B cohort (NCT02306096) of 682 consecutive patients receiving adjuvant trastuzumab, the ultrahigh-ERBB2 mRNA group had significantly worse survival. Multiplex ddPCR is useful for ERBB2 CN estimation and ultrahigh ERBB2 may be a predictive factor for decreased long-term survival after trastuzumab treatment.</p>
Data from: Putative climate adaptation in American pikas (Ochotona princeps) is associated with copy number variation across environmental gradients
<p>Improved understanding of the genetic basis of adaptation to climate change is necessary for maintaining global biodiversity moving forward. Studies to date have largely focused on sequence variation, yet there is growing evidence that suggests that changes in genome structure may be an even more significant source of adaptive potential. The American pika (<em>Ochotona princeps</em>) is an alpine specialist that shows some evidence of adaptation to climate along elevational gradients, but previous work has been limited to single nucleotide polymorphism (SNP)-based analyses within a fraction of the species range. Here, we investigated the role of copy number variation underlying patterns of local adaptation in the American pika using genome-wide data previously collected across the entire species range. We identified 37-193 putative copy number variants (CNVs) associated with environmental variation (temperature, precipitation, solar radiation) within each of the six major American pika lineages, with patterns of divergence largely following elevational and latitudinal gradients. Genes associated (<em>n</em>=158) with independent annotations across lineages, variables, and/or CNVs had functions related to mitochondrial structure/function, immune response, hypoxia, olfaction, and DNA repair, some of which have been previously linked to putative high elevation and/or climate adaptation that may serve as important targets in future studies.</p>
LYCEUM: Learning to call copy number variants on low coverage ancient genomes
<p>Copy number variants (CNVs) are pivotal in driving phenotypic variation that facilitates species adaptation. They are significant contributors to various disorders, making ancient genomes crucial for uncovering the genetic origins of disease susceptibility across populations. However, detecting CNVs in ancient DNA (aDNA) samples poses substantial challenges due to several factors: (i) aDNA is often highly degraded; (ii) contamination from microbial DNA and DNA from closely related species introduce additional noise into sequencing data; and finally, (iii) the typically low coverage of aDNA renders accurate CNV detection particularly difficult. Conventional CNV calling algorithms, which are optimized for high coverage read-depth signals, underperform under such conditions. To address these limitations, we introduce LYCEUM, the first machine learning-based CNV caller for aDNA. To overcome challenges related to data quality and scarcity, we employ a two-step training strategy. First, the model is pre-trained on whole genome sequencing data from the 1000 Genomes Project, teaching it CNV-calling capabilities similar to conventional methods. Next, the model is fine-tuned using high- confidence CNV calls derived from only a few existing high-coverage aDNA samples. During this stage, the model adapts to making CNV calls based on the downsampled read depth signals of the same aDNA samples. LYCEUM achieves accurate detection of CNVs even in typically low-coverage ancient genomes. We also observe that the segmental deletion calls made by LYCEUM show correlation with the demographic history of the samples and exhibit patterns of negative selection inline with natural selection.</p>
The population genetics of adaptation through copy-number variation in a fungal plant pathogen
<p>Supplementary Tables S1-S8 for the manuscript "The population genetics of adaptation through copy-number variation in a fungal plant pathogen"</p>
Quantitative PCR from human genomic DNA: the determination of gene copy numbers for congenital adrenal hyperplasia and RCCX copy number variation
<p>The dataset is related a study in which we aimed to simultaneously assess the performance of 7 quantitative polymerase chain reaction (qPCR) assays for the gene copy number (GCN) determination of the genetic elements of RCCX copy number variation (CNV). A single laboratory method validations of duplex qPCR assays with hydrolysis probes on <em>CYP21A1P</em> and <em>CYP21A2</em> genes, which are responsible for congenital adrenal hyperplasia, were performed using 46 human genomic DNA samples. We also performed the verifications on 5 qPCR assays for the genetic elements of RCCX CNV such as <em>C4A</em> gene, <em>C4B</em>, gene, RCCX CNV breakpoint, HERV-K(C4) CNV deletion and insertion alleles. The dataset contains the data of genomic DNA samples, the raw quantification cycle values of all qPCR experiments, the peak heights and dosage quotient of multiplex ligation-dependent probe amplification (MLPA) experiments, and the detailed GCN results based on qPCR and MLPA. All other analyses are available in our publication under the same title.</p>
Data from: The effect of copy number hemiplasy on gene family evolution
<p>The evolution of gene families is complex, involving gene-level evolutionary events such as gene duplication, horizontal gene transfer, and gene loss (DTL), and other processes such as incomplete lineage sorting (ILS). Because of this, topological differences often exist between gene trees and species trees. A number of models have been recently developed to explain these discrepancies, the most realistic of which attempt to consider both gene-level events and ILS. When unified in a single model, the interaction between ILS and gene-level events can cause polymorphism in gene copy number, which we refer to as copy number hemiplasy (CNH).</p> <p>In this paper we extend the Wright-Fisher process to include duplications and losses over several species, and show that the probability of CNH for this process can be significant. We study how well two unified models --- MLMSC (MultiLocus MultiSpecies Coalescent), which models CNH, and DLCoal (Duplication, Loss, and Coalescence), which does not --- approximate the Wright-Fisher process with duplication and loss.</p> <p>We then study the effect of CNH on gene family evolution by comparing MLMSC and DLCoal. We generate comparable gene trees under both models, showing significant differences in various summary statistics; most importantly, CNH reduces the number of gene copies greatly. If this is not taken into account, the traditional method of estimating duplication rates (by counting the number of gene copies) becomes inaccurate. The simulated gene trees are also used for species tree inference with the summary methods ASTRAL and ASTRAL-Pro, demonstrating that their accuracy, based on CNH-unaware simulations calibrated on real data, may have been overestimated.}</p>
Accumulation of gene copy number variations during the early phase of free-spawning abalone speciation
<p><span>The g</span><span>enetic basis of speciation in free-spawning marine invertebrates is poorly understood. Although gene copy number variations (GCNVs) as well as nucleotide variations possibly trigger the speciation of these organisms, empirical evidence for such </span><span>a hypothesis</span><span> is limited. In this study, we searched for genomic signatures of GCNVs that may contribute to the speciation of Western Pacific abalone species. Whole-genome sequencing data suggested the existence of significant amounts of GCNVs in closely related abalones, <em>Haliotis discus</em> and <em>H. madaka</em>, in the early phase of speciation. In addition, the degree of interspecies genetic differentiation in the genes where GCNVs were estimated was higher than </span><span>that </span><span>in other genes, suggesting that nucleotide divergence also accumulate</span><span>s in the genes with GCNVs.</span><span> GCNVs in some genes were also detected in other related abalone species, suggesting that these GCNVs are derived from both ancestral and <em>de novo</em> mutations.</span> <span>Our findings </span><span>suggest that GCNVs have been accumulated in </span><span>the early phase</span><span> of free-spawning abalone speciation.</span></p>
Dataset related to the article "Binary classification of copy number alteration profiles in liquid biopsy with potential clinical impact in advanced NSCLC"
<p>This record contains original data used in the article "Binary classification of copy number alteration profiles in liquid biopsy with potential clinical impact in advanced NSCLC" to develop a linear support vector machine (SVM) classifier to predict chromosomal instability. </p> <p>We retrospectively evaluated the results of plasma NGS analysis performed at our Institution by using the AVENIO ctDNA Expanded Kit, a panel of 77 genes, which detects the major classes of genetic alterations. Binary classification, into “stable” (SCP) or “unstable” (UCP) chromosomal profiles, was initially performed by visual inspection of individual CNV alteration profiles by two independent professionals of our group. Then we decided to implement a support vector machine (SVM) classifier to automatically classify CNV profiles as SCP or UCP, beyond operators’ experience. We considered the segmented log2 ratios (.cns) files provided by the CNV kit software and computed three features (Segments, Size, Chromosomes). An alteration (“occurrence of instability”) in the CNV profile was defined each time we found a DNA segment of any size with absolute value of the log2 copy ratio exceeding a fixed cut-off. Two different cut-off values on log2 copy ratio were examined: 0.1 and 0.2. Once the cut-off was defined, three features were considered as covariates in the SVM classifier: 1) number of altered segments (Segments), 2) total length of altered regions (Size) and 3) number of affected chromosomes (Chromosomes).</p> <p>The “dataset_0.1.txt” and “dataset_0.2.txt” files are the original data matrices obtained by considering a cut-off of 0.1 and 0.2, respectively, on the absolute value of the log2 copy ratio.</p> <p>Rows represent available samples in our study (n=177). Columns contain the following variables: anonymized sample IDs (Sample), the class, “stable” or “unstable”, as assigned by two independent professionals of our group (Class), the corresponding binary label (Label: 0 for “stable”, 1 for “unstable”), the three features used as covariates in the SVM classifier and computed as described above (Segments, Size, Chromosomes).</p> <p><br>For the detailed results of our work, please refer to the full article.</p>
Size-dependent Copy Number Analysis Data
<p>Data<strong> </strong>used for analysis described in <em><span>Pan-cancer copy number analysis identifies optimized size thresholds and co-occurrence models for individualized risk stratification</span></em></p> <p><strong>MeningiomaSegs.zip </strong>contains the generated copy number segmentation from the sesame pipeline for 565 meningioma samples used in this project</p> <p><strong>MeningiomaClinical.xlsx </strong>contains deidentified clinical outcomes and relevant molecular data for meningioma samples</p> <p><strong>blank_CNV_table.xlsx </strong>is a blank template loaded in several R scripts in this project</p> <p><strong>hg38.14_chrom_arms_manual.txt </strong>Details the starting and ending points of chromosome arms</p> <p><strong>sampleinventory_excluded.xlsx</strong> Lists the TCGA cancer types and how many samples have both copy number and clinical data after manual exclusion of other samples</p>
Copy number variation introduced by a massive mobile element facilitates global thermal adaptation in a fungal wheat pathogen - Supplementary Data files
<p>Supplementary Data file 3-4 included in the manuscript Copy number variation introduced by a massive mobile element facilitates global thermal adaptation in a fungal wheat pathogen. </p>
Data from: Evolutionary variation in gene conversion at the avian MHC is explained by fluctuating selection, gene copy numbers, and life history
<p>The Major Histocompatibility Complex (MHC) multigene family encodes key pathogen-recognition molecules of the vertebrate adaptive immune system. Hyper-polymorphism of MHC genes is <em>de novo</em> generated by point mutations, but new haplotypes may also arise by re-shuffling of existing variation through intra- and inter-locus gene conversion. Although the occurrence of gene conversion at the MHC has been known for decades, we still have limited understanding of its functional importance. Here, I took advantage of extensive genetic resources (~9000 sequences) to investigate a broad scale macroevolutionary patterns in gene conversion processes at the MHC across nearly 200 avian species. Gene conversion was found to constitute a universal mechanism in birds, as 83% of species showed footprints of gene conversion at either MHC class and 25% of all allelic variants were attributed to gene conversion. Gene conversion processes were stronger at MHC-II than MHC-I, but inter-specific variation at both MHC classes was explained by similar evolutionary scenarios, reflecting fluctuating selection towards different optima and drift. Gene conversion showed uneven phylogenetic distribution across birds and was driven by gene copy number variation, supporting significant role of inter-locus gene conversion processes in the evolution of the avian MHC. Finally, MHC gene conversion was stronger in species with fast life histories (high fecundity) and in long-distance migrants, likely reflecting variation in population sizes and host-pathogen coevolutionary dynamics. The results provide a robust comparative framework for understanding macroevolutionary variation in gene conversion at the avian MHC and reinforce important contribution of this mechanism to functional MHC diversity.</p>
Mutation frequency and copy number alterations determine prognosis and metastatic tropism in 60.000 clinical cancer samples
<p>The intricate interplay between somatic mutations and copy number alterations critically influences tumour evolution and patient prognosis. Traditional genomic studies often overlook this interplay by analysing these two biomarker types in isolation. We developed INCOMMON, a computational method to detect allele-specific copy number alterations from clinical targeted panels without matched normal, discover recurrent tumour-specific patterns of co-existing mutations and copy-number alterations, and stratify patients based on these composite genotypes for downstream analyses of survival, metastatic propensity and organotropism. The tool can be used as an open-source R package available at <a href="https://github.com/caravagnalab/INCOMMON">https://github.com/caravagnalab/INCOMMON</a>, and a shiny application available at <a href="https://ncalonaci.shinyapps.io/incommon/" target="_blank" rel="noopener">https://ncalonaci.shinyapps.io/incommon/</a>. This repository contains all the scripts that we used to analyse PCAWG, TCGA, MSK-MetTropism and AACR GENIE-Dfci data, and all the relevant results in the form of data tables.<strong></strong></p>
Copy number variation heterogeneity & hierarchical cancer classifications
<p>This is the CNV data from progenetix on the NCIt morphology tree used in the study Copy number variation heterogeneity reveals biological inconsistency in hierarchical cancer classifications. The columns are separated by tabs, and the values indicate the max CNV value of the biosample on the corresponding bin (1MB) of the genome.</p>
Pangenome graph analysis reveals extensive effector copy-number variation in spinach downy mildew
<p>Data produced for the comparison of six <em>Peronospora effusa</em> isolates. For each isolate, we provide the genome assemblies, gene and repeat annotation, effector clustering, and gene variation. Additionally, we provide the repeat library that was used to annotate the transposable elements for each isolate and the pangenome graph.</p> <p>DOI: https://doi.org/10.1101/2024.05.30.596583 </p>
Amaranthus palmeri EPSPS copy number and glyphosate resistance variation
<p>Gene copy number variation (CNV) has been increasingly associated with organismal responses to environmental stress, but we know little about the quantitative relation between CNV and phenotypic variation. In this study we quantify the relation between variation in <i>EPSPS</i> (5-enolpyruvylshikimate-3-phosphate synthase) copy number using digital drop PCR and variation in phenotypic glyphosate resistance in 22 populations of <i>Amaranthus palmeri</i> (Palmer Amaranth), a range-expanding agricultural weed. Overall, we detected a significant positive relation between population mean copy number and resistance. The majority of populations exhibited high glyphosate resistance yet maintained low-resistance individuals, resulting in bimodality in many populations. We also investigated threshold models for the relation between copy number and resistance, and found evidence for a threshold of ~15 <i>EPSPS</i> copies: there was a steep increase in resistance below the threshold, followed by a much shallower increase. Across 924 individuals, as copy number increases the range of variation in resistance decreases, yielding an increasing frequency of high phenotypic resistance individuals. Among populations <span>we detected a decline in variation (s.d.) as mean phenotypic resistance increased from moderate to high, consistent with the prediction that as phenotypic resistance increases in populations, stabilizing selection decreases variation in the trait. Our study demonstrates that populations of <i>A. palmeri</i> can harbour wide variation in <i>EPSPS</i> copy number and phenotypic glyphosate resistance, reflecting the history of, and template for future, resistance evolution.</span></p>
Data from: Higher evolutionary dynamics of gene copy number for Drosophila glue genes located near short repeat sequences
<p><strong>Background</strong></p> <p>During evolution, genes can experience duplications, losses, inversions and gene conversions. Why certain genes are more dynamic than others is poorly understood. Here we examine how several <em>Sgs</em> genes encoding glue proteins, which make up a bioadhesive that sticks the animal during metamorphosis, have evolved in <em>Drosophila</em> species.</p> <p><strong>Results</strong></p> <p>We examined high-quality genome assemblies of 24 <em>Drosophila</em> species to study the evolutionary dynamics of four glue genes that are present in <em>D. melanogaster</em> and are part of the same gene family <em>–</em> <em>Sgs1, Sgs3, Sgs7 and Sgs8 –</em> across approximately 30 millions of years. We annotated a total of 102 <em>Sgs</em> genes and grouped them into 4 subfamilies. We present here a new nomenclature for these <em>Sgs</em> genes based on protein sequence conservation, genomic location and presence/absence of internal repeats. Two types of glue genes were uncovered. The first category (<em>Sgs1, Sgs3x, Sgs3e</em>) showed a few gene losses but no duplication, no local inversion and no gene conversion. The second group (<em>Sgs3b, Sgs7, Sgs8</em>) exhibited multiple events of gene losses, gene duplications, local inversions and gene conversions. Our data suggest that the presence of short "new glue" genes near the genes of the latter group may have accelerated their dynamics.</p> <p><strong>Conclusions</strong></p> <p>Our comparative analysis suggests that the evolutionary dynamics of glue genes is influenced by genomic context. Our molecular, phylogenetic and comparative analysis of the four glue genes <em>Sgs1, Sgs3, Sgs7</em> and <em>Sgs8 </em>provides the foundation for investigating the role of the various glue genes during <em>Drosophila</em> life.</p>
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Allen Brain Atlas
Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.
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DANDI Archive for NWB datasets
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The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.