Copy number variations and human genetic disease

Mikhail, Fady M.

doi:10.1097/mop.0000000000000142

Cited by 43 publications

(43 citation statements)

References 61 publications

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“…Polymorphic copy number variations (CNVs) represent an important subset of potentially functional disease-associated variation (Mikhail 2014; Usher and McCarroll, 2015). While HGMD does not wish to replicate the excellent curatorial work of other resources (e.g.…”

Section: Classes Of Variant Listed In Hgmdmentioning

confidence: 99%

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

et al. 2017

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The Human Gene Mutation Database (HGMD®) constitutes a comprehensive collection of published germline mutations in nuclear genes that underlie, or are closely associated with human inherited disease. At the time of writing (March 2017), the database contained in excess of 203,000 different gene lesions identified in over 8000 genes manually curated from over 2600 journals. With new mutation entries currently accumulating at a rate exceeding 17,000 per annum, HGMD represents de facto the central unified gene/disease-oriented repository of heritable mutations causing human genetic disease used worldwide by researchers, clinicians, diagnostic laboratories and genetic counsellors, and is an essential tool for the annotation of next-generation sequencing data. The public version of HGMD (http://www.hgmd.org) is freely available to registered users from academic institutions and non-profit organisations whilst the subscription version (HGMD Professional) is available to academic, clinical and commercial users under license via QIAGEN Inc.

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Section: Classes Of Variant Listed In Hgmdmentioning

confidence: 99%

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

et al. 2017

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“…Another class of CNVs is often large in size (>100kb) and occurs with a much lower frequency. [25] CNVs can be detected by array technology, such as array comparative genomic hybridization (aCGH) and SNP arrays, as well as whole exome or whole genome sequencing which is currently under rapid development. It has showed by numerous genetic studies that CNVs are associated with various complex diseases, such as autism [26], Attention Deficit Hyperactivity Disorder (ADHD) [27], congenital heart disease [28], amyotrophic lateral sclerosis [29], obesity [30], endometriosis [31], and food allergy [32].…”

Section: Copy Number Variation (Cnv) Studymentioning

confidence: 99%

Understanding the genetic and epigenetic basis of common variable immunodeficiency disorder through omics approaches

Jin

Wei

et al. 2016

Biochimica et Biophysica Acta (BBA) - General Subjects

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“…CNVs are widespread in the human genome and play an important role in multiple phenotypes [1-3] including vascular diseases [4, 5]. The contribution of structural genetic variation to the risk of ischemic stroke (IS) has not been explored thoroughly: In a CNV study of 263 patients with IS of different causes [6], no common genomic structural variant was unequivocally linked to IS.…”

Section: Introductionmentioning

confidence: 99%

Genetic Imbalance in Patients with Cervical Artery Dissection

Grond‐Ginsbach¹,

Chen²,

Krawczak³

et al. 2017

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Background: Genetic and environmental risk factors are assumed to contribute to the susceptibility to cervical artery dissection (CeAD). To explore the role of genetic imbalance in the etiology of CeAD, copy number variants (CNVs) were identified in high-density microarrays samples from the multicenter CADISP (Cervical Artery Dissection and Ischemic Stroke Patients) study and from control subjects from the CADISP study and the German PopGen biobank. Microarray data from 833 CeAD patients and 2040 control subjects (565 subjects with ischemic stroke due to causes different from CeAD and 1475 disease-free individuals) were analyzed. Rare genic CNVs were equally frequent in CeAD-patients (16.4%; n=137) and in control subjects (17.0%; n=346) but differed with respect to their genetic content. Compared to control subjects, CNVs from CeAD patients were enriched for genes associated with muscle organ development and cell differentiation, which suggests a possible association with arterial development. CNVs affecting cardiovascular system development were more common in CeAD patients than in control subjects (p=0.003; odds ratio (OR) =2.5; 95% confidence interval (95% CI) =1.4-4.5) and more common in patients with a familial history of CeAD than in those with sporadic CeAD (p=0.036; OR=11.2; 95% CI=1.2-107).Conclusion: The findings suggest that rare genetic imbalance affecting cardiovascular system development may contribute to the risk of CeAD. Validation of these findings in independent study populations is warranted.

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Copy number variations and human genetic disease

Abstract: In spite of the advances in the study of the CNV landscape associated with human genetic disease, there still remain many unexplored questions especially regarding the role of CNVs in the pathogenesis of complex human genetic diseases.

Cited by 43 publications

References 61 publications

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

Understanding the genetic and epigenetic basis of common variable immunodeficiency disorder through omics approaches

Genetic Imbalance in Patients with Cervical Artery Dissection

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