Results 1 to 10 of about 170,326 (115)

Neural excitation/inhibition imbalance and neurodevelopmental pathology in human copy number variant syndromes: a systematic review. [PDF]

J Neurodev Disord
Cumulative evidence suggests neurodevelopmental disorders are closely related. The risk of these disorders is increased by a series of copy number variant syndromes – phenotypically heterogeneous genetic disorders, present in a minority of the population.
Sylvester AL, Hensenne E, Ivanov D, Poser BA, Linden DEJ, van Amelsvoort T, Vingerhoets C.   +6 more
europepmc   +2 more sources

Targeted copy number variant identification across the neurodegenerative disease spectrum. [PDF]

Mol Genet Genomic Med, 2022
Background Although genetic factors are known to contribute to neurodegenerative disease susceptibility, there remains a large amount of heritability unaccounted for across the diagnoses.
Dilliott AA, Zhang KK, Wang J, Abrahao A, Binns MA, Black SE, Borrie M, Dowlatshahi D, Finger E, Fischer CE, Frank A, Freedman M, Grimes D, Hassan A, Jog M, Kumar S, Lang AE, Mandzia J, Masellis M, Pasternak SH, Pollock BG, Rajji TK, Rogaeva E, Sahlas DJ, Saposnik G, Sato C, Seitz D, Shoesmith C, Steeves TDL, Swartz RH, Tan B, Tang-Wai DF, Tartaglia MC, Turnbull J, Zinman L, ONDRI Investigators, Hegele RA.   +36 more
europepmc   +2 more sources

Copy number variant detection using next-generation sequencing in EYS-associated retinitis pigmentosa. [PDF]

PLoS One
Retinitis pigmentosa (RP) is the most common inherited retinal dystrophy and a major cause of blindness. RP is caused by several variants of multiple genes, and genetic diagnosis by identifying these variants is important for optimizing treatment and ...
Hiraoka M, Urakawa Y, Kawai K, Yoshida A, Hosakawa J, Takazawa M, Inaba A, Yokota S, Hirami Y, Takahashi M, Ohara O, Kurimoto Y, Maeda A.   +12 more
europepmc   +3 more sources

Improvement of large copy number variant detection by whole genome nanopore sequencing. [PDF]

J Adv Res, 2023
Introduction: Whole-genome sequencing using nanopore technologies can uncover structural variants, which are DNA rearrangements larger than 50 base pairs.
Cuenca-Guardiola J, de la Morena-Barrio B, García JL, Sanchis-Juan A, Corral J, Fernández-Breis JT.   +5 more
europepmc   +2 more sources

Signatures of Discriminative Copy Number Aberrations in 31 Cancer Subtypes

Frontiers in Genetics, 2021
Copy number aberrations (CNA) are one of the most important classes of genomic mutations related to oncogenetic effects. In the past three decades, a vast amount of CNA data has been generated by molecular-cytogenetic and genome sequencing based methods.
Bo Gao, Bo Gao, Michael Baudis, Michael Baudis   +3 more
doaj   +1 more source

Improvement of Definite Diagnosis of Familial Hypercholesterolemia Using an Expanding Genetic Analysis

JACC: Asia, 2021
Background: The deeper understanding of the complex hereditary basis of familial hypercholesterolemia (FH) has raised the rationale of genetic testing, which has been underutilized in clinical practice.
Ye-Xuan Cao, PhD, Di Sun, PhD, Hui-Hui Liu, MD, Jing-Lu Jin, PhD, Sha Li, PhD, Yuan-Lin Guo, MD, Na-Qiong Wu, MD, Cheng-Gang Zhu, MD, Geng Liu, MD, Qian Dong, BS, Jing Sun, BS, Xie-Hui Chen, MD, Jian-Jun Li, PhD, MD   +12 more
doaj   +1 more source

CNV-P: a machine-learning framework for predicting high confident copy number variations [PDF]

PeerJ, 2021
Background Copy-number variants (CNVs) have been recognized as one of the major causes of genetic disorders. Reliable detection of CNVs from genome sequencing data has been a strong demand for disease research.
Taifu Wang, Jinghua Sun, Xiuqing Zhang, Wen-Jing Wang, Qing Zhou   +4 more
doaj   +2 more sources

A genome-wide copy number variant study of suicidal behavior. [PDF]

PLoS ONE, 2015
Suicide and suicide attempts are complex behaviors that result from the interaction of different factors, including genetic variants that increase the predisposition to suicidal behaviors.
Jeffrey A Gross, Alexandre Bureau, Jordie Croteau, Hanga Galfalvy, Maria A Oquendo, Fatemeh Haghighi, Chantal Mérette, Ina Giegling, Colin Hodgkinson, David Goldman, Dan Rujescu, J John Mann, Gustavo Turecki   +12 more
doaj   +1 more source

The effect of algorithms on copy number variant detection. [PDF]

PLoS ONE, 2010
The detection of copy number variants (CNVs) and the results of CNV-disease association studies rely on how CNVs are defined, and because array-based technologies can only infer CNVs, CNV-calling algorithms can produce vastly different findings.
Debby W Tsuang, Steven P Millard, Benjamin Ely, Peter Chi, Kenneth Wang, Wendy H Raskind, Sulgi Kim, Zoran Brkanac, Chang-En Yu   +8 more
doaj   +1 more source

Incorporating CNV analysis improves the yield of exome sequencing for rare monogenic disorders—an important consideration for resource-constrained settings

Frontiers in Genetics, 2023
Exome sequencing (ES) is a recommended first-tier diagnostic test for many rare monogenic diseases. It allows for the detection of both single-nucleotide variants (SNVs) and copy number variants (CNVs) in coding exonic regions of the genome in a single ...
Nadja Louw, Nadia Carstens, Nadia Carstens, Zané Lombard, for DDD-Africa as members of the H3Africa Consortium   +4 more
doaj   +1 more source