Abstract 3969: A novel statistical method for detecting association of copy number variations in genome-wide association studies of cancers

2012 ◽  
Author(s):  
Jianxin Shi ◽  
Peng Li
Keyword(s):  
Statistical Method ◽  
Copy Number ◽  
Association Studies ◽  
Copy Number Variations ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Genome Wide

scholarly journals Dissecting Molecular Genetic Mechanisms of 1q21.1 CNV in Neuropsychiatric Disorders

2021 ◽  
Vol 22 (11) ◽  
pp. 5811
Author(s):  
Joy Yoon ◽  
Yingwei Mao
Keyword(s):  
Copy Number ◽  
Association Studies ◽  
Molecular Genetic ◽  
Neuropsychiatric Disorders ◽  
Autism Spectrum ◽  
Copy Number Variations ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Genome Wide ◽  
Genetic Mechanisms

Pathogenic copy number variations (CNVs) contribute to the etiology of neurodevelopmental/neuropsychiatric disorders (NDs). Increased CNV burden has been found to be critically involved in NDs compared with controls in clinical studies. The 1q21.1 CNVs, rare and large chromosomal microduplications and microdeletions, are detected in many patients with NDs. Phenotypes of duplication and deletion appear at the two ends of the spectrum. Microdeletions are predominant in individuals with schizophrenia (SCZ) and microcephaly, whereas microduplications are predominant in individuals with autism spectrum disorder (ASD) and macrocephaly. However, its complexity hinders the discovery of molecular pathways and phenotypic networks. In this review, we summarize the recent genome-wide association studies (GWASs) that have identified candidate genes positively correlated with 1q21.1 CNVs, which are likely to contribute to abnormal phenotypes in carriers. We discuss the clinical data implicated in the 1q21.1 genetic structure that is strongly associated with neurodevelopmental dysfunctions like cognitive impairment and reduced synaptic plasticity. We further present variations reported in the phenotypic severity, genomic penetrance and inheritance.

On the analysis of copy-number variations in genome-wide association studies: a translation of the family-based association test

2008 ◽  
Vol 32 (3) ◽  
pp. 273-284 ◽  
Author(s):  
Iuliana Ionita-Laza ◽  
George H. Perry ◽  
Benjamin A. Raby ◽  
Barbara Klanderman ◽  
Charles Lee ◽  
...  
Keyword(s):  
Copy Number ◽  
Association Studies ◽  
Copy Number Variations ◽  
Association Test ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Genome Wide ◽  
The Family ◽  
Family Based

DNA copy number and structural variation (CNV) contributions to adult and childhood obesity

2020 ◽  
Vol 48 (4) ◽  
pp. 1819-1828
Author(s):  
Megan Phillips ◽  
Jeganathan Ramesh Babu ◽  
Xu Wang ◽  
Thangiah Geetha
Keyword(s):  
Copy Number ◽  
Current Knowledge ◽  
Association Studies ◽  
Copy Number Variations ◽  
Genomic Diversity ◽  
Health Concern ◽  
Genome Wide Association Studies ◽  
Genome Wide ◽  
Comprehensive Classification ◽  
Genomic Regions

In recent years, obesity has reached epidemic proportions globally and has become a major public health concern. The development of obesity is likely caused by several behavioral, environmental, and genetic factors. Genomic variability among individuals is largely due to copy number variations (CNVs). Recent genome-wide association studies (GWAS) have successfully identified many loci containing CNV related to obesity. These obesity-related CNVs are informative to the diagnosis and treatment of genomic diseases. A more comprehensive classification of CNVs may provide the basis for determining how genomic diversity impacts the mechanisms of expression for obesity in children and adults of a variety of genders and ethnicities. In this review, we summarize current knowledge on the relationship between obesity and the CNV of several genomic regions, with an emphasis on genes at the following loci: 11q11, 1p21.1, 10q11.22, 10q26.3, 16q12.2, 16p12.3, and 4q25.

scholarly journals The genetics of neuropsychiatric disorders

2018 ◽  
Vol 2 ◽  
pp. 239821281879927 ◽  
Author(s):  
Nicholas J. Bray ◽  
Michael C. O’Donovan
Keyword(s):  
Copy Number ◽  
Genetic Architecture ◽  
Recent Progress ◽  
Association Studies ◽  
Neuropsychiatric Disorders ◽  
Review Article ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Genome Wide ◽  
Number Variation

Neuropsychiatric disorders are complex conditions with poorly defined neurobiological bases. In recent years, there have been significant advances in our understanding of the genetic architecture of these conditions and the genetic loci involved. This review article describes historical attempts to identify susceptibility genes for neuropsychiatric disorders, recent progress through genome-wide association studies, copy number variation analyses and exome sequencing, and how these insights can inform the neuroscientific investigation of these conditions.

scholarly journals A genome-wide association study for gut metagenome in Chinese adults illuminates complex diseases

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Xiaomin Liu ◽  
Shanmei Tang ◽  
Huanzi Zhong ◽  
Xin Tong ◽  
Zhuye Jie ◽  
...  
Keyword(s):  
Gut Microbiome ◽  
Genome Wide Association Study ◽  
Association Studies ◽  
Copy Number Variations ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Genetic Associations ◽  
Association Analyses ◽  
Genome Wide ◽  
A Genome

AbstractThe gut microbiome has been established as a key environmental factor to health. Genetic influences on the gut microbiome have been reported, yet, doubts remain as to the significance of genetic associations. Here, we provide shotgun data for whole genome and whole metagenome from a Chinese cohort, identifying no <20% genetic contribution to the gut microbiota. Using common variants-, rare variants-, and copy number variations-based association analyses, we identified abundant signals associated with the gut microbiome especially in metabolic, neurological, and immunological functions. The controversial concept of enterotypes may have a genetic attribute, with the top two loci explaining 11% of the Prevotella–Bacteroides variances. Stratification according to gender led to the identification of differential associations in males and females. Our two-stage metagenome genome-wide association studies on a total of 1295 individuals unequivocally illustrates that neither microbiome nor GWAS studies could overlook one another in our quest for a better understanding of human health and diseases.

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