Results 1 to 10 of about 502,320 (296)

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

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.
Amy L. Sylvester, Eva Hensenne, Dimo Ivanov, Benedikt A. Poser, David E. J. Linden, Thérèse van Amelsvoort, Claudia Vingerhoets   +6 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

Characterization of the Copy Number and Variants of Deformed Wing Virus (DWV) in the Pairs of Honey Bee Pupa and Infesting Varroa destructor or Tropilaelaps mercedesae [PDF]

Frontiers in Microbiology, 2017
Recent honey bee colony losses, particularly during the winter, have been shown to be associated with the presence of both ectoparasitic mites and Deformed Wing Virus (DWV). Whilst the role of Varroa destructor mites as a viral vector is well established,
Yunfei Wu, Xiaofeng Dong, Tatsuhiko Kadowaki   +2 more
doaj   +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 ...
Kuo Zhang, Guigao Lin, Dongsheng Han, Yanxi Han, Rongxue Peng, Jinming Li   +5 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

CNViz: An R/Shiny Application for Interactive Copy Number Variant Visualization in Cancer [PDF]

Journal of Pathology Informatics, 2022
Copy number variants (CNVs) comprise a class of mutation which includes deletion, duplication, or amplification events that range in size from smaller than a single-gene or exon, to the size of a full chromosome.
Rebecca G. Ramesh, Ashkan Bigdeli, Chase Rushton, Jason N. Rosenbaum   +3 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