1. 拷贝数变异 拷贝数变异(copy number variants)常用实验方法介绍Qing 微博 相关博文 精彩图文 推荐博文 谁看过这篇博文 加载中… blog.sina.com.cn|基于11个网页 2. 拷贝数量变异 这些"拷贝数量变异(copy number variants)" 的影响已经在高淀粉类饮食(high-starch diets)的族群中获得证实,他们比那 … ...
Copy number variants (CNVs) are variants within the genome that arise from either duplication or deletion of a subset of an organism's genome. Within the human genome CNVs are now considered much more extensive than single nucleotide polymorphisms (SNPs) and are formed via a number of genomic ...
Copy-number variants (CNVs) are an important part of human genetic variation. They can be benign or can play a role in human disease by creating dosage imbalances and disrupting genes and regulatory elements. Accurate identification and clinical annotation of CNVs is essential, however, manual ...
In the last years, in particular, new developments in genome-wide scanning methodologies have enabled the association of anumber of previously uncharacterized copy number variants (CNVs, gain or loss of DNA) in AD. Because of the exceedingly large number of studies performed, it has become ...
Current sequencing strategies can genetically solve 55–60% of inherited retinal degeneration (IRD) cases, despite recent progress in sequencing. This can partially be attributed to elusive pathogenic variants (PVs) in known IRD genes, including copy-num
W. Glover, 2014 Copy number variants are produced in response to low-dose ionizing radiation in cultured cells. Environ. Mol. Mutagen. 55: 103-113.Arlt MF, Rajendran S, Birkeland SR, Wilson TE, Glover TW. Copy number variants are produced in response to low-dose ionizing radiation in ...
DNA copy number variants (CNVs) are found in 15% of subjects with ID but their association with phenotypic abnormalities has been predominantly studied in smaller cohorts of subjects with detailed yet non-systematically categorized phenotypes, or larger cohorts (thousands of cases) with smaller number...
Copy-number variants (CNVs) are a major form of genetic variation and a risk factor for various human diseases, so it is crucial to accurately detect and characterize them. It is conceivable that allele-specific reads from high-throughput sequencing data could be leveraged to both enhance CNV ...
Database of Genomic Variants. [http://projects.tcag.ca/variation/] Veltman JA, Yntema HG, Lugtenberg D, Arts H, Briault S, Huys EH, Osoegawa K, de Jong P, Brunner HG, Geurts van Kessel A, van Bokhoven H, Schoenmakers EF: High resolution profiling of X chromosomal aberrations by arr...
Gurbich, T.A., Ilinsky, V.V. ClassifyCNV: a tool for clinical annotation of copy-number variants. Sci Rep 10, 20375 (2020).https://doi.org/10.1038/s41598-020-76425-3 License The software provided herein is free for academic instruction and research use only. Commercial licenses are avail...