scholarly journals Copy Number Variants in Four Italian Turkey Breeds

Animals ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 391
Author(s):  
Maria Giuseppina Strillacci ◽  
Stefano Paolo Marelli ◽  
Raffaella Milanesi ◽  
Luisa Zaniboni ◽  
Chiara Punturiero ◽  
...  
Keyword(s):  
Copy Number ◽  
Genetic Improvement ◽  
Geographical Origin ◽  
Copy Number Variants ◽  
Copy Number Variant ◽  
Gene Introgression ◽  
Data Set ◽  
Behavioral Traits ◽  
Genomic Level ◽  
History Of

Heritage breeds can be considered a genetic reservoir of genetic variability to be conserved and valorized considering their historical, cultural, and adaptive characteristics and possibly for their high potential in commercial hybrid genetic improvement by gene introgression. The aim of the present research is to investigate via Copy Number Variant (CNVs) the genomic makeup of 4 Italian autochthonous turkey breeds (Bronzato Comune—BrCI, 24; Ermellinato di Rovigo—ErRo, 24; Parma e Piacenza—PrPc, 25; Romagnolo—RoMa, 29). CNVs detection was performed using two different software and an interbreed CNVs comparison was carried out. A total of 1077 CNVs were identified in 102 turkeys, summarized into 519 CNV regions (CNVRs), which resulted after merging in 101 and 18 breed and shared regions. Biodiversity was analyzed using the effective information supplied by CNVs analysis, and BrCI and ErRo were characterized by a low mapped CNV number. Differences were described at a genomic level related to physiological, reproductive, and behavioral traits. The comparison with other three Italian turkey breeds (Brianzolo, Colle Euganei, and Nero Italiano) using a CNV data set available in the literature showed high clustering properties at the genomic level, and their relationships are strictly linked to the geographical origin and to the history of the rural structure of their native regions.

scholarly journals Exome sequencing in patients with antiepileptic drug exposure and complex phenotypes

2019 ◽  
Vol 105 (4) ◽  
pp. 384-389 ◽  
Author(s):  
Adam Jackson ◽  
Heather Ward ◽  
Rebecca Louise Bromley ◽  
Charulata Deshpande ◽  
Pradeep Vasudevan ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Copy Number ◽  
Developmental Disorders ◽  
Drug Exposure ◽  
Genetic Disorders ◽  
Copy Number Variants ◽  
Copy Number Variant ◽  
In Utero ◽  
Developmental Problems ◽  
Number Of Children

IntroductionFetal anticonvulsant syndrome (FACS) describes the pattern of physical and developmental problems seen in those children exposed to certain antiepileptic drugs (AEDs) in utero. The diagnosis of FACS is a clinical one and so excluding alternative diagnoses such as genetic disorders is essential.MethodsWe reviewed the pathogenicity of reported variants identified on exome sequencing in the Deciphering Developmental Disorders (DDD) Study in 42 children exposed to AEDs in utero, but where a diagnosis other than FACS was suspected. In addition, we analysed chromosome microarray data from 10 patients with FACS seen in a Regional Genetics Service.ResultsSeven children (17%) from the DDD Study had a copy number variant or pathogenic variant in a developmental disorder gene which was considered to explain or partially explain their phenotype. Across the AED exposure types, variants were found in 2/15 (13%) valproate exposed cases and 3/14 (21%) carbamazepine exposed cases. No pathogenic copy number variants were identified in our local sample (n=10).ConclusionsThis study is the first of its kind to analyse the exomes of children with developmental disorders who were exposed to AEDs in utero. Though we acknowledge that the results are subject to bias, a significant number of children were identified with alternate diagnoses which had an impact on counselling and management. We suggest that consideration is given to performing whole exome sequencing as part of the diagnostic work-up for children exposed to AEDs in utero.

scholarly journals Detection and characterization of copy number variants based on whole-genome sequencing by DNBSEQ platforms

2019 ◽  
Author(s):  
Junhua Rao ◽  
Lihua Peng ◽  
Fang Chen ◽  
Hui Jiang ◽  
Chunyu Geng ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Copy Number ◽  
Copy Number Variants ◽  
Copy Number Variant ◽  
Whole Genome ◽  
Genome Wide ◽  
Wide Range ◽  
Distribution Sensitivity ◽  
Cnv Detection

AbstractBackgroundNext-generation sequence (NGS) has rapidly developed in past years which makes whole-genome sequencing (WGS) becoming a more cost- and time-efficient choice in wide range of biological researches. We usually focus on some variant detection via WGS data, such as detection of single nucleotide polymorphism (SNP), insertion and deletion (Indel) and copy number variant (CNV), which playing an important role in many human diseases. However, the feasibility of CNV detection based on WGS by DNBSEQ™ platforms was unclear. We systematically analysed the genome-wide CNV detection power of DNBSEQ™ platforms and Illumina platforms on NA12878 with five commonly used tools, respectively.ResultsDNBSEQ™ platforms showed stable ability to detect slighter more CNVs on genome-wide (average 1.24-fold than Illumina platforms). Then, CNVs based on DNBSEQ™ platforms and Illumina platforms were evaluated with two public benchmarks of NA12878, respectively. DNBSEQ™ and Illumina platforms showed similar sensitivities and precisions on both two benchmarks. Further, the difference between tools for CNV detection was analyzed, and indicated the selection of tool for CNV detection could affected the CNV performance, such as count, distribution, sensitivity and precision.ConclusionThe major contribution of this paper is providing a comprehensive guide for CNV detection based on WGS by DNBSEQ™ platforms for the first time.

scholarly journals HandyCNV: Standardized Summary, Annotation, Comparison, and Visualization of Copy Number Variant, Copy Number Variation Region, and Runs of Homozygosity

2021 ◽  
Vol 12 ◽  
Author(s):  
Jinghang Zhou ◽  
Liyuan Liu ◽  
Thomas J. Lopdell ◽  
Dorian J. Garrick ◽  
Yuangang Shi
Keyword(s):  
Copy Number ◽  
Copy Number Variants ◽  
Copy Number Variant ◽  
R Package ◽  
Copy Number Variation Region ◽  
Runs Of Homozygosity ◽  
Number Variation ◽  
Genomic Studies ◽  
Computing Platforms ◽  
Analysis System

Detection of CNVs (copy number variants) and ROH (runs of homozygosity) from SNP (single nucleotide polymorphism) genotyping data is often required in genomic studies. The post-analysis of CNV and ROH generally involves many steps, potentially across multiple computing platforms, which requires the researchers to be familiar with many different tools. In order to get around this problem and improve research efficiency, we present an R package that integrates the summarization, annotation, map conversion, comparison and visualization functions involved in studies of CNV and ROH. This one-stop post-analysis system is standardized, comprehensive, reproducible, timesaving, and user-friendly for researchers in humans and most diploid livestock species.

scholarly journals The prenatal diagnosis and clinical outcomes of fetuses with 15q11.2 copy number variants: a case series of 36 patients

2021 ◽  
Author(s):  
Jessica Kang ◽  
Chien Nan Lee ◽  
Yi-Ning Su ◽  
Ming-Wei Lin ◽  
Yi-Yun Tai ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Developmental Delay ◽  
Copy Number ◽  
De Novo ◽  
Copy Number Variants ◽  
Case Series ◽  
Copy Number Variant ◽  
University Hospital ◽  
Limited Information ◽  
Ultrasound Findings

Objective: The prenatal genetic counseling of fetus diagnosed with the 15q11.2 copy number variant (CNV) involving the BP1-BP2 region has been difficult due to limited information and controversial opinion on prognosis. Design: Case series. Setting: This study uses data from National Taiwan University Hospital. Sample: Data of 36 pregnant women who underwent prenatal microarray analysis from 2012 to 2017 and were assessed at National Taiwan University Hospital. Methods: Data were collected by reviewing patients’ medical record. Comparison of patient characteristics, prenatal ultrasound findings and postnatal outcomes between different cases involving the 15q11.2 BP1-BP2 region were presented. Main outcome measured: Postnatal prognosis. Results: Out of the 36 patients diagnosed with CNVs involving the BP1-BP2 region, 5 were diagnosed with microduplication and 31 with microdeletion. Abnormal ultrasound findings were recorded in 12 cases prenatally. De novo microduplications were observed in 25% of the cases and microdeletions were found in 14%. Amongst the cases, 10 pregnant women received termination of pregnancy and 26 gave birth to healthy individuals (27 babies in total). Conclusion: The prognoses of 15q11.2 CNVs were controversial and recent studies have revealed its connection with developmental delay and autism. In our study, no obvious developmental delay or neurological disorders were detected postnatally in the 1 case of 15q11.2 microduplication and 25 cases of microdeletion.

scholarly journals Copy-number variants in patients with a strong family history of pancreatic cancer

2007 ◽  
Vol 6 (10) ◽  
pp. 1592-1599 ◽  
Author(s):  
Robert Lucito ◽  
Shubha Suresh ◽  
Kimberly Walter ◽  
Akhilesh Pandey ◽  
B. Lakshmi ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Family History ◽  
Copy Number ◽  
Copy Number Variants ◽  
Strong Family History ◽  
History Of

scholarly journals Analysis of copy number variations at 15 schizophrenia-associated loci

2014 ◽  
Vol 204 (2) ◽  
pp. 108-114 ◽  
Author(s):  
Elliott Rees ◽  
James T. R. Walters ◽  
Lyudmila Georgieva ◽  
Anthony R. Isles ◽  
Kimberly D. Chambert ◽  
...  
Keyword(s):  
Copy Number ◽  
Copy Number Variants ◽  
Copy Number Variations ◽  
High Rate ◽  
Published Data ◽  
Data Sets ◽  
Deleterious Mutations ◽  
Data Set ◽  
Data Analyses ◽  
Susceptibility Factors

BackgroundA number of copy number variants (CNVs) have been suggested as susceptibility factors for schizophrenia. For some of these the data remain equivocal, and the frequency in individuals with schizophrenia is uncertain.AimsTo determine the contribution of CNVs at 15 schizophrenia-associated loci (a) using a large new data-set of patients with schizophrenia (n= 6882) and controls (n= 6316), and (b) combining our results with those from previous studies.MethodWe used Illumina microarrays to analyse our data. Analyses were restricted to 520 766 probes common to all arrays used in the different data-sets.ResultsWe found higher rates in participants with schizophrenia than in controls for 13 of the 15 previously implicated CNVs. Six were nominally significantly associated (P<0.05) in this new data-set: deletions at 1q21.1,NRXN1, 15q11.2 and 22q11.2 and duplications at 16p11.2 and the Angelman/Prader–Willi Syndrome (AS/PWS) region. All eight AS/PWS duplications in patients were of maternal origin. When combined with published data, 11 of the 15 loci showed highly significant evidence for association with schizophrenia (P<4.1×10−4).ConclusionsWe strengthen the support for the majority of the previously implicated CNVs in schizophrenia. About 2.5% of patients with schizophrenia and 0.9% of controls carry a large, detectable CNV at one of these loci. Routine CNV screening may be clinically appropriate given the high rate of known deleterious mutations in the disorder and the comorbidity associated with these heritable mutations.

scholarly journals Copy number variants in clinical WGS: deployment and interpretation for rare and undiagnosed disease

2018 ◽  
Author(s):  
Andrew M Gross ◽  
Subramanian S. Ajay ◽  
Vani Rajan ◽  
Carolyn Brown ◽  
Krista Bluske ◽  
...  
Keyword(s):  
Copy Number ◽  
De Novo ◽  
Genetic Disorders ◽  
Diagnostic Testing ◽  
Copy Number Variants ◽  
Uniparental Disomy ◽  
Copy Number Variant ◽  
Break Point ◽  
Clinically Significant ◽  
Family Based

AbstractPurposeCurrent diagnostic testing for genetic disorders involves serial use of specialized assays spanning multiple technologies. In principle, whole genome sequencing (WGS) has the potential to detect all genomic mutation types on a single platform and workflow. Here we sought to evaluate copy number variant (CNV) calling as part of a clinically accredited WGS test.MethodsUsing a depth-based copy number caller we performed analytical validation of CNV calling on a reference panel of 17 samples, compared the sensitivity of WGS-based variants to those from a clinical microarray, and set a bound on precision using orthogonal technologies. We developed a protocol for family-based analysis, annotation, filtering, visualization of WGS based CNV calls, and deployed this across a clinical cohort of 79 rare and undiagnosed cases.ResultsWe found that CNV calls from WGS are at least as sensitive as those from microarrays, while only creating a modest increase in the number of variants interpreted (~10 CNVs per case). We identified clinically significant CNVs in 15% of the first 79 cases analyzed. This pipeline also enabled identification of cases of uniparental disomy (UPD) and a 50% mosaic trisomy 14. Directed analysis of some CNVs enabled break-point level resolution of genomic rearrangements and phasing of de-novo CNVs.ConclusionRobust identification of CNVs by WGS is possible within a clinical testing environment, and further developments will bring improvements in resolution of smaller and more complex CNVs.

T Cells of Patients with Myelodysplastic Syndrome Are Frequently Derived From the Malignant Clone

Blood ◽  
2011 ◽  
Vol 118 (21) ◽  
pp. 2808-2808
Author(s):  
Suzanne Vercauteren ◽  
Daniel T. Starczynowski ◽  
Sandy Sung ◽  
Kelly McNeil ◽  
Chris Salski ◽  
...  
Keyword(s):  
T Cells ◽  
T Cell ◽  
Copy Number ◽  
Copy Number Variants ◽  
Copy Number Variant ◽  
Common Finding ◽  
Comparative Genomic ◽  
Trisomy 8 ◽  
T Cell Clonality ◽  
Cell Clonality

Abstract Abstract 2808 T cell clonality is a common finding in myelodysplastic syndromes (MDS), but is believed to be a reactive phenomenon. We compared copy number abnormalities in matched CD34+ progenitor cells and CD3+ T cells from 40 MDS patients by array comparative genomic hybridization. In 9 of 14 patients with large copy number variants, we detected the same aberration in CD34+ and CD3+ cells. Chromosome 20q (2 patients), isodicentric × chromosome (2 patients), trisomy 8 (2 patients), 11q abnormalities (1 patient), deletion 5q (1 patient) and partial trisomy 9 with trisomies 19 and 22 (1 patient) were detected in the CD34+ and CD3+ cells of these patients. The presence of deletion 20q, trisomy 8 and deletion of chromosome arm 11q in the T cells of 3 patients was confirmed by FISH. Multiplex PCR for TCR γ rearrangement was performed on 6 of the 14 MDS patients with large copy number variants. T cell clonality was detected in 3 of 4 and oligoclonality in 1 of 4 patients when the copy number variant was present in both CD34+ and CD3+ cells. In contrast, the 2 cases lacking the CD34+ copy number variant in the CD3+ population were polyclonal at the TCR γ locus. These data suggest that in a large proportion of MDS at least a proportion of the T cells are part of the malignant clone, and that CD3+ cells do not represent an appropriate patient normal control for genome-wide studies. Disclosures: No relevant conflicts of interest to declare.

scholarly journals A Copy Number Variant on Chromosome 20q13.3 Implicated in Thinness and Severe Obesity

2015 ◽  
Vol 2015 ◽  
pp. 1-7 ◽  
Author(s):  
Sandra J. Hasstedt ◽  
Yuanpei Xin ◽  
Rong Mao ◽  
Tracey Lewis ◽  
Ted D. Adams ◽  
...  
Keyword(s):  
Copy Number ◽  
Severe Obesity ◽  
Copy Number Variants ◽  
Copy Number Variant ◽  
Null Alleles ◽  
Comparative Genomic ◽  
Likelihood Analysis ◽  
Severely Obese ◽  
Obese Subjects ◽  
Real Time Qpcr

Background/Objectives.To identify copy number variants (CNVs) which are associated with body mass index (BMI).Subjects/Methods.CNVs were identified using array comparative genomic hybridization (aCGH) on members of pedigrees ascertained through severely obese (BMI ≥ 35 kg/m2) sib pairs (86 pedigrees) and thin (BMI ≤ 23 kg/m2) probands (3 pedigrees). Association was inferred through pleiotropy of BMI with CNVlog⁡2intensity ratio.Results.A 77-kilobase CNV on chromosome 20q13.3, confirmed by real-time qPCR, exhibited deletions in the obese subjects and duplications in the thin subjects (P=2.2×10-6). Further support for the presence of a deletion derived from inference by likelihood analysis of null alleles for SNPs residing in the region.Conclusions.One or more of 7 genes residing in a chromosome 20q13.3 CNV region appears to influence BMI. The strongest candidate isARFRP1, which affects glucose metabolism in mice.

scholarly journals ANOVA-HD: Analysis of variance when both input and output layers are high-dimensional

PLoS ONE ◽  
2020 ◽  
Vol 15 (12) ◽  
pp. e0243251
Author(s):  
Gustavo de los Campos ◽  
Torsten Pook ◽  
Agustin Gonzalez-Reymundez ◽  
Henner Simianer ◽  
George Mias ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Gene Expression ◽  
Copy Number ◽  
Homo Sapiens ◽  
Linear Span ◽  
Copy Number Variants ◽  
High Dimensional ◽  
Data Set ◽  
Cancer Data ◽  
Data Layers

Modern genomic data sets often involve multiple data-layers (e.g., DNA-sequence, gene expression), each of which itself can be high-dimensional. The biological processes underlying these data-layers can lead to intricate multivariate association patterns. We propose and evaluate two methods to determine the proportion of variance of an output data set that can be explained by an input data set when both data panels are high dimensional. Our approach uses random-effects models to estimate the proportion of variance of vectors in the linear span of the output set that can be explained by regression on the input set. We consider a method based on an orthogonal basis (Eigen-ANOVA) and one that uses random vectors (Monte Carlo ANOVA, MC-ANOVA) in the linear span of the output set. Using simulations, we show that the MC-ANOVA method gave nearly unbiased estimates. Estimates produced by Eigen-ANOVA were also nearly unbiased, except when the shared variance was very high (e.g., >0.9). We demonstrate the potential insight that can be obtained from the use of MC-ANOVA and Eigen-ANOVA by applying these two methods to the study of multi-locus linkage disequilibrium in chicken (Gallus gallus) genomes and to the assessment of inter-dependencies between gene expression, methylation, and copy-number-variants in data from breast cancer tumors from humans (Homo sapiens). Our analyses reveal that in chicken breeding populations ~50,000 evenly-spaced SNPs are enough to fully capture the span of whole-genome-sequencing genomes. In the study of multi-omic breast cancer data, we found that the span of copy-number-variants can be fully explained using either methylation or gene expression data and that roughly 74% of the variance in gene expression can be predicted from methylation data.

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