Modeling genetic inheritance of copy number variations
… of the chromosome-specific copy number model for a single … copy number configuration
in which copy number changes … Due to the high-dimensionality (25 × 25 × 25) of the table for …
in which copy number changes … Due to the high-dimensionality (25 × 25 × 25) of the table for …
[HTML][HTML] Implications of gene copy-number variation in health and diseases
SH Almal, H Padh - Journal of human genetics, 2012 - nature.com
… It has been reported that higher copy number of AMY1 gene is correlated positively with …
protein levels and a population with high-starch food consumption has higher copy number of …
protein levels and a population with high-starch food consumption has higher copy number of …
Support for the involvement of large copy number variants in the pathogenesis of schizophrenia
G Kirov, D Grozeva, N Norton, D Ivanov… - Human molecular …, 2009 - academic.oup.com
… We investigated the involvement of rare (<1%) copy number variants (CNVs) in 471 cases
of schizophrenia and 2792 controls that had been genotyped using the Affymetrix GeneChip® …
of schizophrenia and 2792 controls that had been genotyped using the Affymetrix GeneChip® …
High-resolution DNA analysis of human embryonic stem cell lines reveals culture-induced copy number changes and loss of heterozygosity
… Here we report the highest-resolution study of hESCs to date … SNPs) and 946,000 probes for
copy number variations (CNVs). … to samples with normal copy number states, of which >44% …
copy number variations (CNVs). … to samples with normal copy number states, of which >44% …
[HTML][HTML] Copy number variation sequencing for comprehensive diagnosis of chromosome disease syndromes
D Liang, Y Peng, W Lv, L Deng, Y Zhang, H Li… - The Journal of Molecular …, 2014 - Elsevier
… expertise, and high cost have precluded the widespread use of arrays, and, therefore, the
incidence of children born with chromosome disease remains unacceptably high.27, 28, 29 …
incidence of children born with chromosome disease remains unacceptably high.27, 28, 29 …
Methods and strategies for analyzing copy number variation using DNA microarrays
NP Carter - Nature genetics, 2007 - nature.com
… in advancing our current understanding of copy number variation. In the most … copy
number changes in this smaller size range. For these reasons, it is clear that large-insert clone …
number changes in this smaller size range. For these reasons, it is clear that large-insert clone …
Distribution and functional impact of DNA copy number variation in the rat
V Guryev, K Saar, T Adamovic, M Verheul… - Nature …, 2008 - nature.com
… Using the same parameters as for genome-wide CNV detection, we were able to detect copy
number differences in a relatively high proportion of these probe sets (48 out of 292). Thirty-…
number differences in a relatively high proportion of these probe sets (48 out of 292). Thirty-…
[HTML][HTML] DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects
… Average copy numbers of AMY1 were shown to be higher in populations with high-starch …
may be used as models in which higher copy numbers were found to correlate with a lower …
may be used as models in which higher copy numbers were found to correlate with a lower …
Mitochondrial DNA copy number variation across human cancers
… Abstract Mutations, deletions, and changes in copy number … Here, we survey mtDNA copy
number variation across 22 … ing a high degree of co-expression with mtDNA levels. Finally…
number variation across 22 … ing a high degree of co-expression with mtDNA levels. Finally…
Genome-wide detection of single-nucleotide and copy-number variations of a single human cell
… majority of copy numbers are consistent between single cells, we also observe cell-to-cell
variations as … The mutation rate of this cancer cell line is about 10 times as high as the mutation …
variations as … The mutation rate of this cancer cell line is about 10 times as high as the mutation …