Copy-number
CCL3L1 copy number and susceptibility to malaria
... CCL3L1 copy numbers observed in this African pop- ulation is greater than that observed with European populations, though it is not fully understood how this divergence has evolved or been ...of copy ...
8
A genome-wide assessment of rare copy number variants in colorectal cancer
... Colorectal cancer (CRC) is a complex disease with an estimated heritability of approximately 35%. However, known CRC-related common single nucleotide polymorphisms (SNPs) can only explain ~0.65% of the heritability. This ...
13
Chromosome 9p21 gene copy number and prognostic significance of p16 in ESFT
... average copy number per cell so contaminating normal cells will influence the ...abnormal copy number of control probe target sequences will result in the allocation of an inaccurate test ...
10
DNA Copy Number Variation in a Cohort of Healthy Australian Women
... of copy number change between adjacent ...in copy number state and uses a large population reference source to index the B allele frequency, the latter providing more accurate estimation of ...
378
Dynamics of copy number variation in host races of the pea aphid.
... Copy number variation (CNV) makes a major contribution to overall genetic variation and is suspected to play an important role in ...for copy number, especially in the P450 gene family where ...
18
Novel origins of copy number variation in the dog genome
... In total, this procedure detected 430 CNV loci distribu- ted along the chromosomes (Figure 1). Out of these loci, 226 were classified as deletions (53%) and 104 as duplica- tions (24%), meaning that the only variants ...
18
Reduced rate of copy number aberrations in mucinous colorectal carcinoma
... DNA copy number profiles were ...DNA copy number profiles of 17 MC and 135 AC patients from the CAIRO study and 12 MC and 100 AC patients from the CAIRO2 study were ...
11
DNA copy number evolution in Drosophila cell lines
... between copy number and ...to copy number, which is mediated by regulatory feed- back ...a copy number rec- ognition system, analogous to MSL and POF, which uniformly adjust ...
20
Review Article Copy number alterations in colorectal cancer
... multiple copy number alterations of chromosomes in CRC, and both protein- and non- protein coding genes ...treatment. Copy number alterations could af- fect both tumor and metastasis genomes ...
11
SMURF seq: efficient copy number profiling on long read sequencers
... We sequenced a normal diploid female genome with SMURF-seq, resulting in 270.8k reads (mean read length of 6.75 kb) in a single run. These reads were split into 7.28 million fragments (26.87 mean fragments per read). A ...
9
Dosage sensitivity is a major determinant of human copy number variant pathogenicity
... Human copy number variants (CNVs) account for genome variation an order of magnitude larger than single-nucleotide ...evolutionary copy number conservation across mammals, indicative of ...
11
Human amylase gene copy number variation as a determinant of metabolic state
... AMY1 copy number, and the findings of other studies which used similar techniques must inevitably also be questioned [52, ...AMY1 copy number and lower obesity risk which was stronger in ...
40
Comprehensive copy number profiles of breast cancer cell model genomes
... with aggressive tumor phenotype, disease recurrence and reduced duration of survival [20]. We identified multiple copy number alterations within this cytoband and defined distinct minimal regions of ...
14
Somatic mutation and gain of copy number of PIK3CA in human breast cancer
... increased copy number of the PIK3CA gene is associated with increased PIK3CA transcription, P110-alpha protein expression, and PI3K activity in ovarian cancer ...
8
Accurate measurement of gene copy number for human alpha defensin DEFA1A3
... gene copy number, detailed assess- ment of the accuracy of a new typing methodology is es- sential before it can be used in large sample ...the copy number of some reference standard samples ...
12
Increased copy number at 3p14 in breast cancer
... increased copy numbers of LRIG1 in four of the nine tumours from group B (example shown in ...increased copy number varied between 21% and ...gene copy numbers in these tumours (ongoing study, ...
9
The association of copy number variation and percent mammographic density
... as copy number variation (CNV), are common in the germline and have been implicated in the risk of diseases including neuroblastoma, cata- racts, and cancer ...germline copy number variation ...
9
Single cell copy number variation detection
... CGHnormaliter have been developed for array CGH data [10,11]. Poplowess attempts to separate normal from aberrant probes using k-means clustering and applies the loess normalization based on the largest group of probes, ...
14
Alteration of the copy number of mitochondrial coxi gene in the sperms of iraqi asthenozoospermic patients
... mtDNA copy number during ...mitochondrial number and mtDNA content with higher ATP demands (Moraes et ...mtDNA copy number per cubic micrometer of cell is concurrent with the higher ATP ...
6
Analysis of molecular inversion probe performance for allele copy number determination
... estimated copy number for allele A versus allele B, compared to a tumor with relatively normal genome structure (Figure ...heterozygous copy number measure- ...discrete copy ...
14