scholarly journals Missed diagnoses of abnormal copy number variant cases: A national epidemic or an endemic at a single institution?

2018 ◽  
Vol 38 (10) ◽  
pp. 727-729
Author(s):  
Alessandro Ghidini ◽  
Lyn S. Chitty
Keyword(s):  
Copy Number ◽  
Copy Number Variant ◽  
Single Institution ◽  
Abnormal Copy Number ◽  
Missed Diagnoses

scholarly journals The epidemic of abnormal copy number variant cases missed because of reliance upon noninvasive prenatal screening

2018 ◽  
Vol 38 (10) ◽  
pp. 730-734 ◽  
Author(s):  
Mark I. Evans ◽  
Stephanie Andriole ◽  
Jenifer Curtis ◽  
Shara M. Evans ◽  
Alan A. Kessler ◽  
...  
Keyword(s):  
Copy Number ◽  
Prenatal Screening ◽  
Copy Number Variant ◽  
Noninvasive Prenatal Screening ◽  
Abnormal Copy Number

44. Reevaluation of copy number variant (CNV) classifications in the clinical laboratory setting: challenges, insights, and experiences with a laboratory-initiated process

2021 ◽  
Vol 252-253 ◽  
pp. S15
Author(s):  
Denise I Quigley ◽  
Zoe K Lewis ◽  
Timothy Tidwell ◽  
Adam Clayton ◽  
Brandon Chandler ◽  
...  
Keyword(s):  
Copy Number ◽  
Clinical Laboratory ◽  
Copy Number Variant ◽  
Laboratory Setting

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 Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

2010 ◽  
Vol 87 (5) ◽  
pp. 618-630 ◽  
Author(s):  
Daniel Moreno-De-Luca ◽  
Jennifer G. Mulle ◽  
Erin B. Kaminsky ◽  
Stephan J. Sanders ◽  
Scott M. Myers ◽  
...  
Keyword(s):  
High Risk ◽  
Copy Number ◽  
Copy Number Variant

scholarly journals Chromosome 22 Deletions and Suicidal Behavior in Schizophrenia

2021 ◽  
pp. 1-8
Author(s):  
Ali Bani-Fatemi ◽  
Christopher Adanty ◽  
Nasia Dai ◽  
Ariel Graff ◽  
Philip Gerretsen ◽  
...  
Keyword(s):  
Suicide Attempt ◽  
Suicidal Behavior ◽  
Copy Number ◽  
Rating Scale ◽  
Copy Number Variant ◽  
Chromosome 22 ◽  
Suicide Attempters ◽  
Severity Rating ◽  
Neuropsychiatric Diseases ◽  
Significant Difference

Background: Studies have shown that the overall copy number variant (CNV) load is associated with schizophrenia. Schizophrenia is a mental disorder that is frequently associated with suicidal behavior. Methods: We recruited 263 patients with schizophrenia from the Centre for Addiction and Mental Health. The Columbia Suicide Severity Rating Scale was used to assess the presence of lifetime suicide attempt. Genotyping was completed using the Illumina Omni 2.5 chip. We tested the association between deletion events on chromosome 22 with suicide attempt in our schizophrenia sample. Results: There was no significant difference between suicide attempters and non-attempters considering the presence/absence of deletion events on chromosome 22. Conclusion: Although our results did not show a significant association between deletions on chromosome 22 and suicide attempt in schizophrenia, CNV studies may reveal important, novel insights and open further investigation for the treatment of neuropsychiatric diseases.

scholarly journals A novel rare copy number variant of the ABCF1 gene identified among dengue fever patients from Peninsular Malaysia

2014 ◽  
Vol 13 (1) ◽  
pp. 980-985 ◽  
Author(s):  
B.P. Hoh ◽  
S.S. Sam ◽  
S.H. Umi ◽  
M. Mahiran ◽  
N.Y. Nik Khairudin ◽  
...  
Keyword(s):  
Dengue Fever ◽  
Copy Number ◽  
Copy Number Variant ◽  
Peninsular Malaysia

scholarly journals Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans

2009 ◽  
Vol 106 (39) ◽  
pp. 16746-16751 ◽  
Author(s):  
B. Xu ◽  
A. Woodroffe ◽  
L. Rodriguez-Murillo ◽  
J. L. Roos ◽  
E. J. van Rensburg ◽  
...  
Keyword(s):  
Copy Number ◽  
Genetic Architecture ◽  
Copy Number Variant

scholarly journals MCKAT, a multi-dimensional copy number variant kernel association test

2021 ◽  
Author(s):  
Nastaran Maus Esfahani ◽  
Daniel Catchpoole ◽  
Javed Khan ◽  
Paul J. Kennedy
Keyword(s):  
Copy Number ◽  
Kernel Method ◽  
Random Effect ◽  
Random Effect Model ◽  
Score Test ◽  
Copy Number Variant ◽  
Association Test ◽  
P Value ◽  
Single Pair ◽  
Related Trait

AbstractBackgroundCopy number variants (CNVs) are the gain or loss of DNA segments in the genome. Studies have shown that CNVs are linked to various disorders, including autism, intellectual disability, and schizophrenia.Consequently, the interest in studying a possible association of CNVs to specific disease traits is growing. However, due to the specific multi-dimensional characteristics of the CNVs, methods for testing the association between CNVs and the disease-related traits are still underdeveloped. We propose a novel multi-dimensional CNV kernel association test (MCKAT) in this paper. We aim to find significant associations between CNVs and disease-related traits using kernel-based methods.ResultsWe address the multi-dimensionality in CNV characteristics. We first design a single pair CNV kernel, which contains three sub-kernels to summarize the similarity between two CNVs considering all CNV characteristics. Then, aggregate single pair CNV kernel to the whole chromosome CNV kernel, which summarizes the similarity between CNVs in two or more chromosomes. Finally, the association between the CNVs and disease-related traits is evaluated by comparing the similarity in the trait with kernel-based similarity using a score test in a random effect model. We apply MCKAT on genome-wide CNV datasets to examine the association between CNVs and disease-related traits, which demonstrates the potential usefulness the proposed method has for the CNV association tests. We compare the performance of MCKAT with CKAT, a uni-dimensional kernel method. Based on the results, MCKAT indicates stronger evidence, smaller p-value, in detecting significant associations between CNVs and disease-related traits in both rare and common CNV datasets.ConclusionA multi-dimensional copy number variant kernel association test can detect significantly associated CNVs with any disease-related trait. MCKAT can help biologists detect significantly associated CNVs with any disease-related trait across a patient group instead of examining the CNVs case by case in each subject.

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