Results 11 to 20 of about 790,983 (253)

Copy number variation and neuropsychiatric illness [PDF]

Current Opinion in Genetics & Development, 2021
Copy number variants (CNVs) at specific loci have been identified as important risk factors for several neuropsychiatric disorders, such as schizophrenia, autism spectrum disorder, intellectual disability (ID) and depression. These CNVs are individually rare (
Elliott Rees, George Kirov
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Copy Number Variation: Methods and Clinical Applications

Applied Sciences, 2021
Gains and losses of large segments of genomic DNA, known as copy number variants (CNVs) gained considerable interest in clinical diagnostics lately, as particular forms may lead to inherited genetic diseases.
Ondrej Pös, Jan Radvanszky, Jakub Styk, Zuzana Pös, Gergely Buglyó, Michal Kajsik, Jaroslav Budis, Bálint Nagy, Tomas Szemes   +8 more
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Copy Number Variation in Domestication [PDF]

Trends in Plant Science, 2019
Domesticated plants have long served as excellent models for studying evolution. Many genes and mutations underlying important domestication traits have been identified, and most causal mutations appear to be SNPs. Copy number variation (CNV) is an important source of genetic variation that has been largely neglected in studies of domestication ...
Zoe N. Lye, Michael D. Purugganan, Michael D. Purugganan   +2 more
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Comprehensively benchmarking applications for detecting copy number variation.

PLoS Computational Biology, 2019
MOTIVATION:Recently, copy number variation (CNV) has gained considerable interest as a type of genomic variation that plays an important role in complex phenotypes and disease susceptibility.
Le Zhang, Wanyu Bai, Na Yuan, Zhenglin Du   +3 more
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PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data [PDF]

Genome Research, 2007
Comprehensive identification and cataloging of copy number variations (CNVs) is required to provide a complete view of human genetic variation. The resolution of CNV detection in previous experimental designs has been limited to tens or hundreds of ...
Kai Wang, Mingyao Li, Dexter Hadley, Rui Liu, Joseph Glessner, Struan F.A. Grant, Hákon Hákonarson, Maja Bućan   +7 more
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GENESPACE tracks regions of interest and gene copy number variation across multiple genomes

eLife, 2022
The development of multiple chromosome-scale reference genome sequences in many taxonomic groups has yielded a high-resolution view of the patterns and processes of molecular evolution.
J. Lovell, A. Sreedasyam, M. Schranz, Melissa A. Wilson, J. Carlson, A. Harkess, David M. Emms, D. Goodstein, J. Schmutz   +8 more
semanticscholar   +1 more source

Genome-wide copy number variations in Bhutia equine breed using SNP genotyping data

Indian Journal of Animal Sciences, 2023
Copy number variants (CNVs) have dynamic potential and evolutionary significance like other genetic variants, namely, single nucleotide polymorphisms, InDels, short tandem repeat polymorphisms, inversion variants, etc.
NITESH KUMAR SHARMA, PRASHANT SINGH, BIBEK SAHA, ANURADHA BHARDWAJ, MIR ASIF IQUEBAL, YASH PAL, VARIJ NAYAN, SARIKA JAISWAL, SHIV KUMAR GIRI, RAM AVATAR LEGHA, T K BHATTACHARYA, DINESH KUMAR, ANIL RAI, BHUPENDRA NATH TRIPATHI   +13 more
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CNVpytor: a tool for copy number variation detection and analysis from read depth and allele imbalance in whole-genome sequencing

bioRxiv, 2021
Detecting copy number variations (CNVs) and copy number alterations (CNAs) based on whole genome sequencing data is important for personalized genomics and treatment.
M. Šuvakov, Arijit Panda, Colin M. Diesh, I. Holmes, A. Abyzov   +4 more
semanticscholar   +1 more source

Copy number variation in Thai population. [PDF]

PLoS ONE, 2014
Copy number variation (CNV) is a major genetic polymorphism contributing to genetic diversity and human evolution. Clinical application of CNVs for diagnostic purposes largely depends on sufficient population CNV data for accurate interpretation.
Bhoom Suktitipat, Chaiwat Naktang, Wuttichai Mhuantong, Thitima Tularak, Paramita Artiwet, Ekawat Pasomsap, Wallaya Jongjaroenprasert, Suthat Fuchareon, Surakameth Mahasirimongkol, Wasan Chantratita, Boonsit Yimwadsana, Varodom Charoensawan, Natini Jinawath   +12 more
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Copy Number Variations and Schizophrenia

Molecular Neurobiology, 2022
Abstract Schizophrenia is a neurodevelopmental disorder with genetic and environmental factors involved in its aetiology. Genetic liability contributing to the development of schizophrenia is a subject of extensive research activity, as reliable data regarding its aetiology would enable the improvement of its therapy and the development of new methods ...
Kamila Szecówka, Błażej Misiak, Izabela Łaczmańska, Dorota Frydecka, Ahmed A. Moustafa   +4 more
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