scholarly journals Copy number variation analysis of twin pairs discordant for cleft lip with or without cleft palate

2019 ◽  
Vol 33 ◽  
pp. 205873841985587
Author(s):  
Luca Scapoli ◽  
Francesco Carinci ◽  
Annalisa Palmieri ◽  
Francesca Cura ◽  
Alessandro Baj ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Copy Number ◽  
Large Scale ◽  
Cleft Lip ◽  
Small Sample Size ◽  
Copy Number Variants ◽  
Monozygotic Twins ◽  
Monozygotic Twin ◽  
Small Sample ◽  
High Level

Non-syndromic cleft lip with or without cleft palate (nsCL/P) is a frequent orofacial malformation. The comparison of concordance rate observed in monozygotic and dizygotic twins supports high level of heritability and a strong genetic component. However, phenotype concordance for orofacial cleft in monozygotic twins is about 50%. The aim of the present investigation was to detect postzygotic events that may account for discordance in monozygotic twins. High-density SNP microarrays hybridization was used to genotype two pairs of monozygotic twins discordant for nsCL/P. Discordant SNP genotypes and copy number variants were analyzed to identify genetic differences responsible of phenotype discrepancy. A number of differences were observed, none involving known nsCL/P candidate genes or genomic regions. Considering the limitation of the study, related to the small sample size and to the large-scale investigation method, the results suggest that the detection of discordant events in other monozygotic twin pairs would be remarkable and warrant further investigations.

Copy Number Variation Distribution in Six Monozygotic Twin Pairs Discordant for Schizophrenia

2014 ◽  
Vol 17 (2) ◽  
pp. 108-120 ◽  
Author(s):  
Christina A. Castellani ◽  
Zain Awamleh ◽  
Melkaye G. Melka ◽  
Richard L. O'Reilly ◽  
Shiva M. Singh
Keyword(s):  
Copy Number ◽  
De Novo ◽  
Twin Pair ◽  
Neurodevelopmental Disorder ◽  
Copy Number Variants ◽  
Monozygotic Twins ◽  
Monozygotic Twin ◽  
Chain Reaction ◽  
Number Variation ◽  
Polymerase Chain

We have evaluated copy number variants (CNVs) in six monozygotic twin pairs discordant for schizophrenia. The data from Affymetrix® Human SNP 6.0 arrays™ were analyzed using Affymetrix® Genotyping Console™, Partek® Genomics Suite™, PennCNV, and Golden Helix SVS™. This yielded both program-specific and overlapping results. Only CNVs called by Affymetrix Genotyping Console, Partek Genomics Suite, and PennCNV were used in further analysis. This analysis included an assessment of calls in each of the six twin pairs towards identification of unique CNVs in affected and unaffected co-twins. Real time polymerase chain reaction (PCR) experiments confirmed one CNV loss at 7q11.21 that was found in the affected patient but not in the unaffected twin. The results identified CNVs and genes that were previously implicated in mental abnormalities in four of the six twin pairs. It included PYY (twin pairs 1 and 5), EPHA3 (twin pair 3), KIAA1211L (twin pair 4), and GPR139 (twin pair 5). They represent likely candidate genes and CNVs for the discordance of four of the six monozygotic twin pairs for this heterogeneous neurodevelopmental disorder. An explanation for these differences is ontogenetic de novo events that differentiate in the monozygotic twins during development.

CONTRIBUTION OF DNA COPY-NUMBER VARIATION (CNV) TO CANCER SUSCEPTIBILITY AND LARGE-SCALE GENOME ALTERATIONS IN OSTEOSARCOMA (OS)

2008 ◽  
Vol 31 (4) ◽  
pp. 19
Author(s):  
I Pasic ◽  
A Shlien ◽  
A Novokmet ◽  
C Zhang ◽  
U Tabori ◽  
...  
Keyword(s):  
Genomic Instability ◽  
Large Scale ◽  
Structural Variation ◽  
Age Of Onset ◽  
Cancer Susceptibility ◽  
Small Sample Size ◽  
Snp Array ◽  
Tumour Suppressor Gene ◽  
Small Sample ◽  
International Hapmap Project

Introduction: OS, a common Li-Fraumeni syndrome (LFS)-associated neoplasm, is a common bone malignancy of children and adolescents. Sporadic OS is also characterized by young age of onset and high genomic instability, suggesting a genetic contribution to disease. This study examined the contribution of novel DNA structural variation elements, CNVs, to OS susceptibility. Given our finding of excessive constitutional DNA CNV in LFS patients, which often coincide with cancer-related genes, we hypothesized that constitutional CNV may also provide clues about the aetiology of LFS-related sporadic neoplasms like OS. Methods: CNV in blood DNA of 26 patients with sporadic OS was compared to that of 263 normal control samples from the International HapMap project, as well as 62 local controls. Analysis was performed on DNA hybridized to Affymetrix genome-wide human SNP array 6.0 by Partek Genomic Suite. Results: There was no detectable difference in average number of CNVs, CNV length, and total structural variation (product of average CNV number and length) between individuals with OS and controls. While this data is preliminary (small sample size), it argues against the presence of constitutional genomic instability in individuals with sporadic OS. Conclusion: We found that the majority of tumours from patients with sporadic OS show CN loss at chr3q13.31, raising the possibility that chr3q13.31 may represent a “driver” region in OS aetiology. In at least one OS tumour, which displays CN loss at chr3q13.31, we demonstrate decreased expression of a known tumour suppressor gene located at chr3q13.31. We are investigating the role ofchr3q13.31 in development of OS.

0306 Exploring the feasibility of using copy number variants as genetic markers through large-scale whole genome sequencing experiments

2016 ◽  
Vol 94 (suppl_5) ◽  
pp. 146-146
Author(s):  
D. M. Bickhart ◽  
L. Xu ◽  
J. L. Hutchison ◽  
J. B. Cole ◽  
D. J. Null ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genetic Markers ◽  
Genome Sequencing ◽  
Copy Number ◽  
Large Scale ◽  
Copy Number Variants ◽  
Whole Genome

scholarly journals Bayesian copy number detection and association in large-scale studies

2020 ◽  
Author(s):  
Stephen Cristiano ◽  
David McKean ◽  
Jacob Carey ◽  
Paige Bracci ◽  
Paul Brennan ◽  
...  
Keyword(s):  
Copy Number ◽  
Large Scale ◽  
Disease Risk ◽  
Copy Number Variants ◽  
Regulatory Elements ◽  
Cancer Case ◽  
Tumor Supressor ◽  
Increase Risk ◽  
Control Study

AbstractGermline copy number variants (CNVs) increase risk for many diseases, yet detection of CNVs and quantifying their contribution to disease risk in large-scale studies is challenging. We developed an approach called CNPBayes to identify latent batch effects, to provide probabilistic estimates of integer copy number across the estimated batches, and to fully integrate the copy number uncertainty in the association model for disease. We demonstrate this approach in a Pancreatic Cancer Case Control study of 7,598 participants where the major sources of technical variation were not captured by study site and varied across the genome. Candidate associations aided by this approach include deletions of 8q24 near regulatory elements of the tumor oncogene MYC and of Tumor Supressor Candidate 3 (TUSC3). This study provides a robust Bayesian inferential framework for estimating copy number and evaluating the role of copy number in heritable diseases.

scholarly journals Review of the Studies in the Use of Biofeedback Therapy in Rehabilitation and Physiatrics of Neurological Patients

Doctor Ru ◽  
2021 ◽  
Vol 20 (9) ◽  
pp. 43-47
Author(s):  
E.Yu. Mozheyko ◽  
◽  
O.V. Petryaeva ◽  
◽  
◽  
...  
Keyword(s):  
Large Scale ◽  
Small Sample Size ◽  
Small Sample ◽  
Healthy Population ◽  
Biofeedback Therapy ◽  
Level Of Evidence ◽  
Double Blind ◽  
Key Points ◽  
Neurological Patients ◽  
Drug Free

Objective of the Review: To collect information, analyse and evaluate previous studies in the use of biofeedback in neurological patients. Key Points. Despite the wide practical application and a lot of available publications, the level of evidence of this method is low because of a small sample size and the challenges with biofeedback mechanism description. A review of various types of biocontrol, its mechanisms and developments shows that drug-free therapy using only patient’s resources (organic, psychological, emotional and volitional) can activate the mechanisms of neuroplasticity, which are poorly studied. Still, it does not prevent from using biocontrol for the therapy of patients and/or prevention of various diseases in healthy population. Conclusion. Biofeedback therapy has proven to be a safe, relatively efficient and easy-to-use method. However, organisation of a large-scale double blind randomized trial is one of the predominant directions in the future. Keywords: biofeedback, biocontrol, neurofeedback, biofeedback therapy.

scholarly journals Combining Bayesian Approaches and Evolutionary Techniques for the Inference of Breast Cancer Networks

2017 ◽  
Author(s):  
Stefano Beretta ◽  
Mauro Castelli ◽  
Ivo Gonçalves ◽  
Ivan Merelli ◽  
Daniele Ramazzotti
Keyword(s):  
Breast Cancer ◽  
Graphical Models ◽  
Protein Interactions ◽  
Large Scale ◽  
Small Sample Size ◽  
Small Sample ◽  
Cancer Data ◽  
Correlation Networks ◽  
Model Complex ◽  
Cancer Networks

AbstractGene and protein networks are very important to model complex large-scale systems in molecular biology. Inferring or reverseengineering such networks can be defined as the process of identifying gene/protein interactions from experimental data through computational analysis. However, this task is typically complicated by the enormously large scale of the unknowns in a rather small sample size. Furthermore, when the goal is to study causal relationships within the network, tools capable of overcoming the limitations of correlation networks are required. In this work, we make use of Bayesian Graphical Models to attach this problem and, specifically, we perform a comparative study of different state-of-the-art heuristics, analyzing their performance in inferring the structure of the Bayesian Network from breast cancer data.

Identifying the determinants of Malaysian corporate Sukuk rating

2018 ◽  
Vol 11 (3) ◽  
pp. 432-448 ◽  
Author(s):  
Nur Amirah Borhan ◽  
Noryati Ahmad
Keyword(s):  
Information Asymmetry ◽  
Multinomial Logistic Regression ◽  
Small Sample Size ◽  
Small Sample ◽  
Third Party ◽  
Significant Variable ◽  
Content Type ◽  
Rating Agencies ◽  
High Level ◽  
Rating Category

Purpose This study aims to identify the determinants of Malaysian corporate Sukuk rating and attempts to find out which determinant has the most significant impact. Design/methodology/approach The framework tries to establish a relationship between firm’s size, profitability, Sukuk guarantee status and types of Sukuk with Sukuk rating from the perspective of Agency Theory and Information Asymmetry Theory. The data consist of 43 Sukuk issuances from 2006 to 2015. Multinomial Logistic Regression Model is then used to find out the significant determinants of Sukuk rating. Findings The study found that only three variables significantly impact Sukuk rating. The results show that a guaranteed Sukuk Ijarah or a guaranteed Sukuk Musyarakah that is issued by a highly profitable firm has a higher likelihood of getting rating AAA or rating AA as compared to getting rating A. A type of Sukuk, particularly Sukuk Murabahah, is the most significant variable influencing Sukuk rating. However, firm size is not a significant determinant of Sukuk rating in the context of this study. Research limitations implications The first limitation of the study is the relatively small sample size. Second, the study only tested four independent variables. Practical implications Several implications are derived from the results of the study. First, new firms that are planning to issue Sukuk should consistently maintain a high level of profit and consider issuing debt-based Sukuk to ensure that the issued Sukuk have higher rating. To increase the likelihood of getting higher rating, they should also consider providing a third-party guarantor. As for existing Sukuk issuers that are in lower rating category, they should increase their profitability to be upgraded to higher rating category. Second, risk-adverse investors should invest in highly profitable, guaranteed and debt-based Sukuk, as these Sukuk are likely to be in higher rating category and provide guarantee in terms of capital payments during liquidation or bankruptcy. Third, to reduce information asymmetry, policymakers should make it compulsory for all Sukuk issuers to have their Sukuk rated annually and make it mandatory for all rating agencies in Malaysia to publish their Sukuk rating methodologies. Originality/value This paper helps to expand the limited existing literature about the determinants of Sukuk rating, particularly for the Malaysian corporate Sukuk.

Multimodal Remote Sensing Image Classification with Small Sample Size Based on High-Level Feature Fusion

2019 ◽  
Vol 56 (11) ◽  
pp. 111001
Author(s):  
贺琪 Qi He ◽  
李瑶 Yao Li ◽  
宋巍 Wei Song ◽  
黄冬梅 Dongmei Huang ◽  
何盛琪 Shengqi He ◽  
...  
Keyword(s):  
Remote Sensing ◽  
Sample Size ◽  
Image Classification ◽  
Feature Fusion ◽  
Small Sample Size ◽  
Remote Sensing Image ◽  
Small Sample ◽  
Remote Sensing Image Classification ◽  
High Level ◽  
High Level Feature

A Comparison of Three Methods of Repairing the Hard Palate

2002 ◽  
Vol 39 (4) ◽  
pp. 383-391 ◽  
Author(s):  
R. W. Pigott ◽  
E. H. Albery ◽  
I. S. Hathorn ◽  
N. E. Atack ◽  
A. Williams ◽  
...  
Keyword(s):  
Hard Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Small Sample Size ◽  
Statistical Significance ◽  
Small Sample ◽  
Velopharyngeal Insufficiency ◽  
Strong Trend ◽  
Computer Based ◽  
Palate Repair

Objective To compare growth, speech, and nasal symmetry outcomes of three methods of hard palate repair. Patients Consecutive available records of children born with unilateral bony complete cleft lip and palate over the period 1972 to 1992. Interventions Identical management of lip, nose, alveolus, and soft palate. Hard palate repair by Cuthbert Veau (CV) from 1972 to 1981, von Langenbeck (vL) from 1982 to 1989, or medial Langenbeck (ML) from 1989 to 1991. Outcome Measures For growth: GOSLON yardstick or 5-year model index. For speech: articulation test. Nasal anemometry. For nasal symmetry: Coghlan computer-based assessment. All these measures were developed during the period of data collection but not for this project. Results There was a strong trend toward more favorable anteroposterior maxillary growth with the change from CV to vL to ML techniques. This fell short of statistical significance because of the small sample size. There was a significant reduction in cleft-related articulation faults (p = .01) considered to be related to improved arch form. In the absence of improved rates of velopharyngeal insufficiency or nasal symmetry, increased surgical experience was discounted as a significant contribution to improved growth and articulation outcomes. Conclusions Reduced periosteal undermining and residual exposed palatal shelf from CV to vL to ML improved incisor relationships and articulation.

Facebook as a platform for co-creating music festival experiences

2016 ◽  
Vol 7 (2) ◽  
pp. 84-99 ◽  
Author(s):  
Emma Hoksbergen ◽  
Andrea Insch
Keyword(s):  
Young Adults ◽  
Large Scale ◽  
Small Sample Size ◽  
Small Sample ◽  
Survey Method ◽  
Future Research ◽  
Content Type ◽  
Music Festival ◽  
Alternative Means ◽  
On Line

Purpose The purpose of this paper is to address the need to understand how younger music festival-goers use and engage with a music festival’s Facebook page, and how they perceive this social networking service (SNS) as a potential on-line platform for value co-creation. Design/methodology/approach Face-to-face in-depth interviews were conducted with 16 young adults who attended an annual New Year’s Eve music festival, Rhythm and Vines, in Gisborne, New Zealand. Findings Analysis of the interview data revealed that the majority of participants did not actively engage with this platform and could be categorised as passive viewers or information-seekers. In addition, participants perceived five types of value from using this SNS: functional, social, emotional, interactive and aesthetic value. Even though participants were not segmented due to the small sample size, patterns in their levels of engagement with Facebook, attendance status, reasons for attending the festival and the combinations of forms of value that they perceived were identified. Research limitations/implications Future research should use a large-scale survey method to obtain a representative sample that is generalisable to a specific population of music festival-goers. Practical implications Dominance of features on Facebook providing festival-goers with functional value suggests they prefer a passive or co-optation approach to value co-creation in this context. Due to the limited extent of participants actively co-creating value on this platform, alternative means of encouraging interaction to co-create value with festival-goers should be investigated. Originality/value This study demonstrates that this SNS provides this group of young adults with a means to connect their real-time festival experience, with their on-line Facebook social network during the year.

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