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Copy Number Variations in Neuropsychiatric Disorders
International Journal of Molecular Sciences, 2023 Neuropsychiatric disorders are complex conditions that represent a significant global health burden with complex and multifactorial etiologies. Technological advances in recent years have improved our understanding of the genetic architecture of the major neuropsychiatric disorders and the genetic loci involved.
Gergely Büki +2 more
openaire +2 more sources
Copy number variation of human AMY1 is a minor contributor to variation in salivary amylase expression and activity [PDF]
, 2017 Background Salivary amylase in humans is encoded by the copy variable gene AMY1 in the amylase gene cluster on chromosome 1. Although the role of salivary amylase is well established, the consequences of the copy number variation (CNV) at AMY1 on ...
Armour, John A.L. +2 more
core +3 more sources
İstanbul Tıp Fakültesi Dergisi, 2021 Objective: Alpha thalassemia is a common type of hemoglobinopathy that occurs as a result of deletions or point mutations in the alpha globin gene cluster.
Selma Demir +5 more
doaj +1 more source
A large data resource of genomic copy number variation across neurodevelopmental disorders
npj Genomic Medicine, 2019 Copy number variations (CNVs) are implicated across many neurodevelopmental disorders (NDDs) and contribute to their shared genetic etiology. Multiple studies have attempted to identify shared etiology among NDDs, but this is the first genome-wide CNV ...
M. Zarrei +59 more
semanticscholar +1 more source
Copy number variation of TdDof controls solid-stemmed architecture in wheat
Proceedings of the National Academy of Sciences of the United States of America, 2020 Significance Solid-stemmed wheat cultivars are resistant to the wheat stem sawfly, an important agricultural pest. Here, we identify TdDof as the causal gene that controls stem solidness in wheat.
K. Nilsen +17 more
semanticscholar +1 more source
The significance of copy number variations in schizophrenia [PDF]
British Journal of Psychiatry, 2014 Rees et al [1][1] seek to replicate the association with schizophrenia of copy number variants (CNVs) involving putative schizophrenia loci in a large case-control study. They conclude that 11 of the 15 previously implicated loci were strongly associated with schizophrenia.
openaire +4 more sources
MONTAGE: a new tool for high-throughput detection of mosaic copy number variation
BMC Genomics, 2021 Background Not all cells in a given individual are identical in their genomic makeup. Mosaicism describes such a phenomenon where a mixture of genotypic states in certain genomic segments exists within the same individual.
Joseph T. Glessner +7 more
doaj +1 more source
Cellular effects and clinical implications of SLC2A3 copy number variation
Journal of Cellular Physiology, 2020 SLC2A3 encodes the predominantly neuronal glucose transporter 3 (GLUT3), which facilitates diffusion of glucose across plasma membranes. The human brain depends on a steady glucose supply for ATP generation, which consequently fuels critical biochemical ...
G. C. Ziegler +4 more
semanticscholar +1 more source
Post‐selection inference for changepoint detection algorithms with application to copy number variation data [PDF]
Biometrics, 2018 Changepoint detection methods are used in many areas of science and engineering, for example, in the analysis of copy number variation data to detect abnormalities in copy numbers along the genome.
S. Hyun +3 more
semanticscholar +1 more source
A backward procedure for change-point detection with applications to copy number variation detection
, 2019 Change-point detection regains much attention recently for analyzing array or sequencing data for copy number variation (CNV) detection. In such applications, the true signals are typically very short and buried in the long data sequence, which makes it ...
Hao, Ning, Shin, Seung Jun, Wu, Yichao
core +1 more source