Copy Number VariationPhenotype-specific CNVBioinformaticsChromosome visualizationAssociation studyRecently, Copy Number Variation (CNV) has been recognized as one of the most important genomic alterations in the study of human variation, as it can be employed as a novel marker for human disease studies....
CNV is a form of chromosomal structural variation, which stands for Copy Number Variation. Chromosomes are the genetic material within cells that carry an individual's genetic information. Under normal circumstances, each chromosome should have two copies (a pair), one inherited from the mother and...
In addition, we validated the accuracy of AMYCNE copy number predictions on two additional genes (FCGR3A and FCGR3B) using datasets available through the 1000 genomes consortium. Finally, we simulated levels of mosaic loss and gain of chromosome X and used this dataset for benchmarking AMYCNE....
Screening for CNVs using chromosome microarrays is now routinely performed in subjects with ID and databases of CNVs identified in subjects with ID or controls facilitate CNV interpretation (e.g. Database of Chromosomal Imbalance and Phenotype in Human Using Ensemble Resources, DECIPHER, http://...
and easy-to-interpret copy number results. This fast and simple method can be completed in hours rather than days. Use TaqMan Copy Number Assays to screen specific targets using a workflow that can be automated to process several...
different platforms and bioinformatics pipelines, we developed a novel strategy to identify CNVs with close coordinates based on a maximal-clique algorithm. Firstly, we divided CNVs into groups based on chromosomal location. Within each chromosome, the distance between any two CNVs was calculated as ...
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-number variations (CNVs), which have been shown ...
Use TaqMan Copy Number Assays to screen specific targets using a workflow that can be automated to process several hundred to thousands of samples in a single day. And because TaqMan Assays are the gold standard for accurate targe...
(OR = 0.69,P = 1.1E−05) was for a 1.5 Mb region at the start of chromosome 17 (17:13905–1559829). The probe-specific and gene burden results highlighted some stronger signals within this region, for example withinNXNandVPS53, but the direction of effect was consistent ...
Growth and reproduction were studied in laboratory colonies of the southern grasshopper mouse, Onychomys torridus torridus, and of the northern grasshopper... AJ Pinter - 《Journal of Mammalogy》 被引量: 45发表: 1970年 Fine Haplotype Structure of a Chromosome 17 Region in the Laboratory and Wild...