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67 results for “Copy number variant”
Rare Genomic Copy Number Variants Implicate New Candidate Genes for Bicuspid Aortic Valve
<p>Whole genome genotyping data in dbGAP format and copy number variant calls in dbVar format.</p> <p>dbVar data includes CNV calls from cases with early onset bicuspid aortic valve disease (EBAV), cases from the International BAV Consortium (BAVCon), and controls from the dbGAP Wisconsin Longitudinal Study on Aging dataset (WLS).</p> <p>dbGAP files are divided into 12 batches of genotypes from EBAV subjects (EBAV1-12):</p> <p>1) PLINK output files (.map and .ped)</p> <p>2) GenomeStudio Final Report files</p> <p>3) One master pedigree file</p> <p>4) dbGAP subject mapping files</p> <p> </p>
Copy number variants outperform SNPs to reveal genotype-temperature association in a marine species
<p>Copy number variants (CNVs) are a major component of genotypic and phenotypic variation in genomes. To date, our knowledge of genotypic variation and evolution has largely been acquired by means of single nucleotide polymorphism (SNPs) analyses. Until recently, the adaptive role of structural variants (SVs) and particularly that of CNVs has been overlooked in wild populations, partly due to their challenging identification. Here, we document the usefulness of Rapture, a derived reduced‐representation shotgun sequencing approach, to detect and investigate copy number variants (CNVs) alongside SNPs in American lobster (<i>Homarus americanus</i>) populations. We conducted a comparative study to examine the potential role of SNPs and CNVs in local adaptation by sequencing 1,141 lobsters from 21 sampling sites within the southern Gulf of St. Lawrence, which experiences the highest yearly thermal variance of the Canadian marine coastal waters. Our results demonstrated that CNVs account for higher genetic differentiation than SNP markers. Contrary to SNPs, for which no significant genetic–environment association was found, 48 CNV candidates were significantly associated with the annual variance of sea surface temperature, leading to the genetic clustering of sampling locations despite their geographic separation. Altogether, we provide a strong empirical case that CNVs putatively contribute to local adaptation in marine species and unveil stronger spatial signal of population structure than SNPs. Our study provides the means to study CNVs in nonmodel species and highlights the importance of considering structural variants alongside SNPs to enhance our understanding of ecological and evolutionary processes shaping adaptive population structure.</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>
Copy number variants outperform SNPs to reveal genotype-temperature association in a marine species
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Plasma metabolomic signatures for copy number variants and COVID-19 risk loci in Northern Finland Populations
<p>A MySQL database for metabolomic signatures for The Northern Finland Birth Cohorts, <strong>NFBC1966 </strong>and <strong>NFBC1986</strong>, a longitudinal research program based at the Medical Faculty, University of Oulu, Finland. This dataset is a supplement to the manuscript titlted "Plasma metabolomic signatures for copy number variants and COVID-19 risk loci in Northern Finland Populations"</p>
Single-cell somatic copy number variants in brain using different amplification methods and reference genomes
<p>Variable and constant sized bins for GRCh38 and T2T-Chm13 were generated using the buildGenome scripts provided with Ginkgo (<a href="https://github.com/robertaboukhalil/ginkgo/tree/master/genomes/scripts">https://github.com/robertaboukhalil/ginkgo/tree/master/genomes/scripts</a>).</p>
Copy Number variants in Mallotus villosus
<p>Taking advantage of recent developments allowing CNV analysis from RAD-seq data (<a class="nova-e-link nova-e-link--color-inherit nova-e-link--theme-decorated" href="https://www.researchgate.net/deref/http%3A%2F%2Fdx.doi.org%2F10.1111%2Fmec.15565?_sg%5B0%5D=-uwA9TZisRRXnspI5ElYUaPv2ChLuHLDZPIJZABoML2rc-geS2mVnZVIt2u4FAB6_SPD-DeRxtzyN3RjHivkmfmvEg.JqPMUYewJwfNoZvoALtl54UTEL4BWYI0NA87y3HrK16wm8cRVOG0c0owiV4QoaSysHfAZCLPkLmn-UaqCdolJQ">10.1111/mec.15565</a>), we investigated how variation in fitness-related traits, local environmental conditions and demographic history are associated with CNVs, and how subsequent copy number variation drives population genetic structure in a marine fish, the capelin (<i>Mallotus villosus</i>). We collected 1536 DNA samples from 35 sampling sites in the north Atlantic Ocean and identified 6620 putative CNVs. Raw sequencing data for GBS libraries have been published in a previous study (Cayuela et al. 2020, <a class="nova-e-link nova-e-link--color-inherit nova-e-link--theme-decorated" href="https://www.researchgate.net/deref/http%3A%2F%2Fdx.doi.org%2F10.1111%2Fmec.15499?_sg%5B0%5D=OGdqMkvPArx5ICrgLrdT_ifFufXzoOZp0J7gLQEctL4EWpJv-h9FK8yFaom_h68N368lpxVYXRREN9BRpAi7lH0n8A.ylPnOWuObAEr1NJn9bzfYxNNAAwvYDvN0jDBR05xnfdW8Azf-PmnI7jDZFhecO1Kt1aTdFuxG0Yr3ff2e10XCg">10.1111/mec.15499</a>) and are available under accession no. PRJNA631144. Here, we provide the files of normalized read depth for the 6620 putative CNVs and environmental data used in our CNV analyses.</p>
Data from: Evolution and selection of Rhg1, a copy-number variant nematode-resistance locus
The soybean cyst nematode (SCN) resistance locus Rhg1 is a tandem repeat of a 31.2 kb unit of the soybean genome. Each 31.2-kb unit contains four genes. One allele of Rhg1, Rhg1-b, is responsible for protecting most US soybean production from SCN. Whole-genome sequencing was performed, and PCR assays were developed to investigate allelic variation in sequence and copy number of the Rhg1 locus across a population of soybean germplasm accessions. Four distinct sequences of the 31.2-kb repeat unit were identified, and some Rhg1 alleles carry up to three different types of repeat unit. The total number of copies of the repeat varies from 1 to 10 per haploid genome. Both copy number and sequence of the repeat correlate with the resistance phenotype, and the Rhg1 locus shows strong signatures of selection. Significant linkage disequilibrium in the genome outside the boundaries of the repeat allowed the Rhg1 genotype to be inferred using high-density single nucleotide polymorphism genotyping of 15 996 accessions. Over 860 germplasm accessions were found likely to possess Rhg1 alleles. The regions surrounding the repeat show indications of non-neutral evolution and high genetic variability in populations from different geographic locations, but without evidence of fixation of the resistant genotype. A compelling explanation of these results is that balancing selection is in operation at Rhg1.
Data from: Nucleotide polymorphism and copy number variant detection using exome capture and next generation sequencing in the polyploid grass Panicum virgatum
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Data from: Evolution and selection of Rhg1, a copy-number variant nematode-resistance locus
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Copy Number variants in Mallotus villosus
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Extensive genetic diversity and substructuring among zebrafish strains revealed through copy number variant analysis (CGH)
GEO Series GSE33962. Danio rerio. 3 samples. Type: Genome variation profiling by genome tiling array.
Chromosomal microarray data for validation of copy-number variants detection from a low-coverage whole-genome sequencing approach in clinical samples
GEO Series GSE73191. Homo sapiens. 72 samples. Type: Genome variation profiling by array; Genome variation profiling by SNP array; SNP genotyping by SNP array.
Exome sequencing data analysis to characterize rare germline copy number variants involved in colorectal cancer predisposition
GEO Series GSE96597. Homo sapiens. 10 samples. Type: Expression profiling by array.
Identification and functional impact of genomic copy number variants in zebrafish, an important human disease model (Zebrafish Strain CNVs) (CGH ZV81M 2)
GEO Series GSE28278. Danio rerio. 76 samples. Type: Genome variation profiling by genome tiling array.
Extensive genetic diversity and substructuring among zebrafish strains revealed through copy number variant analysis
GEO Series GSE28328. Danio rerio. 93 samples. Type: Expression profiling by array; Genome variation profiling by genome tiling array.
Increased copy-number variant load of associated risk genes in sporadic cases of amyotrophic lateral sclerosis
GEO Series GSE239611. Homo sapiens. 52 samples. Type: Genome variation profiling by array.
A comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants
GEO Series GSE25893. Homo sapiens. 385 samples. Type: Genome variation profiling by SNP array; SNP genotyping by SNP array; Genome variation profiling by genome tiling array.
Copy number variants in candidate genes are genetic modifiers of Hirschsprung disease
GEO Series GSE29051. Homo sapiens. 28 samples. Type: Genome variation profiling by genome tiling array.
A comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants (HumanOmni1-Quad)
GEO Series GSE28104. Homo sapiens. 36 samples. Type: Genome variation profiling by SNP array; SNP genotyping by SNP array.
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International Brain Laboratory public data
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.