Results 1 to 10 of about 162,786 (255)

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

Journal of Neurodevelopmental Disorders
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.
David Linden, Amy L Sylvester, Ivanov Dimo   +2 more
exaly   +3 more sources

Adaptation of ACMG-ClinGen Technical Standards for Copy Number Variant Interpretation Concordance [PDF]

Frontiers in Genetics, 2022
This study aimed to evaluate inter-laboratory classification concordance for copy number variants (CNVs) with a semiquantitative point-based scoring metric recommended by the American College of Medical Genetics and Genomics (ACMG) and Clinical Genome ...
Guigao Lin, Jinming Li, Dongsheng Han
exaly   +4 more sources

HandyCNV: Standardized Summary, Annotation, Comparison, and Visualization of Copy Number Variant, Copy Number Variation Region, and Runs of Homozygosity

Frontiers in Genetics, 2021
Detection of CNVs (copy number variants) and ROH (runs of homozygosity) from SNP (single nucleotide polymorphism) genotyping data is often required in genomic studies.
Dorian Garrick, Jinghang Zhou, Thomas John Lopdell   +2 more
exaly   +3 more sources

MCKAT: a multi-dimensional copy number variant kernel association test [PDF]

BMC Bioinformatics, 2021
Background Copy 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.
Nastaran Maus Esfahani, Daniel Catchpoole, Javed Khan, Paul J. Kennedy   +3 more
doaj   +2 more sources

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

Molecular Genetics & Genomic Medicine, 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.
Allison A. Dilliott, Kristina K. Zhang, Jian Wang, Agessandro Abrahao, Malcolm A. Binns, Sandra E. Black, Michael Borrie, Dar Dowlatshahi, Elizabeth Finger, Corinne E. Fischer, Andrew Frank, Morris Freedman, David Grimes, Ayman Hassan, Mandar Jog, Sanjeev Kumar, Anthony E. Lang, Jennifer Mandzia, Mario Masellis, Stephen H. Pasternak, Bruce G. Pollock, Tarek K. Rajji, Ekaterina Rogaeva, Demetrios J. Sahlas, Gustavo Saposnik, Christine Sato, Dallas Seitz, Christen Shoesmith, Thomas D. L. Steeves, Richard H. Swartz, Brian Tan, David F. Tang‐Wai, Maria C. Tartaglia, John Turnbull, Lorne Zinman, ONDRI Investigators, Robert A. Hegele   +36 more
doaj   +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 ...
Masakazu Hiraoka, Yusaku Urakawa, Kanako Kawai, Akiko Yoshida, Junichi Hosakawa, Masaki Takazawa, Akira Inaba, Satoshi Yokota, Yasuhiko Hirami, Masayo Takahashi, Osamu Ohara, Yasuo Kurimoto, Akiko Maeda   +12 more
doaj   +3 more sources

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

Journal of Advanced Research, 2023
Introduction: Whole-genome sequencing using nanopore technologies can uncover structural variants, which are DNA rearrangements larger than 50 base pairs.
Javier Cuenca-Guardiola, Belén de la Morena-Barrio, Juan L. García, Alba Sanchis-Juan, Javier Corral, Jesualdo T. Fernández-Breis   +5 more
doaj   +2 more sources

Large-scale copy number variant analysis in genes linked to Parkinson´s disease [PDF]

npj Parkinson's Disease
Genetic studies of Parkinson’s disease (PD) have focused on single nucleotide variants (SNVs), with limited attention to copy number variants (CNVs). This study investigates CNVs in PD using candidate PD-related genes and genome-wide approaches.
Zied Landoulsi, Katja Lohmann, Eva-Juliane Vollstedt, Emily Wedgwood-Benn, Lisa-Marie Niestroj, Björn-Hergen Laabs, Sebastian Sendel, Alexander Balck, Max Borsche, Dennis Lal, Anne Grünewald, Norbert Brüggemann, Andre Franke, Andrew Hicks, Meike Kasten, Kirsten E. Zeuner, Lara M. Lange, Wolfgang Lieb, Brit Mollenhauer, Heike Pawlack, Peter P. Pramstaller, Amke Caliebe, Inke R. König, Patrick May, Christine Klein   +24 more
doaj   +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