[PDF] Top 20 Copy number variation in the horse genome.
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Copy number variation in the horse genome.
... of the aldo-keto reductases (AKR) superfamily [78]and encode for 3a-hydroxysteroid dehy- drogenases [78] which are critically involved in steroid hormone metabolism ...[79]. In the human ... See full document
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Assessing Mitochondrial DNA Variation and Copy Number in Lymphocytes of ~2,000 Sardinians Using Tailored Sequencing Analysis Tools.
... for the much-discussed possibility that heteroplasmies may accumulate with age, we did observe a significant ...To the best of our knowledge, this is the first direct analysis relating mtDNA variant ... See full document
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Complement Factor H-Related Protein 3 Serum Levels Are Low Compared to Factor H and Mainly Determined by Gene Copy Number Variation in CFHR3.
... of the ELISA was confirmed using serum from a healthy donor that has a homozy- gous deletion of CFHR3/CFHR1 (determined by MLPA), as no signal was detected in this serum (Fig ...Furthermore, the ... See full document
13
Identification of genome-wide copy number variations among diverse pig breeds using SNP genotyping arrays.
... of the 8 successfully validated CNVRs contain functionally important ...located in two olfactory receptor 1J4-like genes (LOC100623462 and LOC100157267) were used for CNVR22 ...validation. The ... See full document
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Four loci explain 83% of size variation in the horse.
... at the withers while Shires and Percherons can exceed two meters. The genetic basis for this variation is not ...that the breed population structure of the horse should simplify ... See full document
6
Genome-wide association study of copy number variants suggests LTBP1 and FGD4 are important for alcohol drinking.
... sample. The discovery sample consisted of 2,286 unrelated Caucasian subjects that were recruited in Midwestern US in Kansas City, Missouri and Omaha, ... See full document
6
Detecting cancer gene networks characterized by recurrent genomic alterations in a population.
... for copy number alteration to pathway (above) may prove useful for other genome analyses such as genome-wide mutational screens or association ...example, the complex mutational ... See full document
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Robust regression analysis of copy number variation data based on a univariate score.
... of the paper is organized as ...on the X-chromosome to determine a score function that correlates with the chance that a called CNV overlaps with a true ...deletions in eight Hapmap samples ... See full document
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Dosage sensitivity shapes the evolution of copy-number varied regions.
... of the human genome is affected by structural variations [1], such as inversions, small insertions/deletions or large copy-number variants (CNVs) ...of genome evolution ...re-evaluated ... See full document
10
Novel polymorphisms in plasmodium falciparum ABC transporter genes are associated with major ACT antimalarial drug resistance
... However, the most deadly malaria pathogen, Plasmodium falciparum, has repeatedly mounted resistance against a series of antimalarial drugs used in the last ...to the artemisinins, the ... See full document
11
Effect of MPG gene rs2858056 polymorphism, copy number variation, and level of serum MPG protein on the risk for rheumatoid arthritis.
... worldwide. The present investigation examined whether an MPG SNP is associated with RA ...of the literature on MED- LINE, an association between the gene polymorphism of MPG rs2858056 and RA has not ... See full document
10
Transposable elements P and gypsy in natural populations of Drosophila willistoni
... during the diversification of these populations; iii) alterations in the host genomic DNA surrounding the P ele- ment sequence, leading to an alteration in the length of ... See full document
6
Identification of nine genomic regions of amplification in urothelial carcinoma, correlation with stage, and potential prognostic and therapeutic value.
... a genome wide analysis of 164 urothelial carcinoma samples and 27 bladder cancer cell lines to identify copy number changes associated with disease characteristics, and examined the ... See full document
11
Regulatory hotspots in the malaria parasite genome dictate transcriptional variation.
... examined the genetic inheritance of tran- scriptional ...illustrates the concept that genome-wide readouts of segregating natural variation point to polymorphic regulatory loci, a finding ... See full document
12
Multi-platform whole-genome microarray analyses refine the epigenetic signature of breast cancer metastasis with gene expression and copy number.
... stocks in aMEM medium (Invitrogen) Supplemented with 10% FCS (Wisent ...without the use of antibiotics. At the fifth passage, each cell line was split into parallel flasks (three each for expression ... See full document
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CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing.
... investigated genome-wide CNV calling of each method, quantifying performance in terms of precision (specificity) and recall ...For the C0902 cell line we derived absolute integer copy numbers ... See full document
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Prohibitin Expression Deregulation in Gastric Cancer Is Associated with the 3 ' Untranslated Region 1630 C > T Polymorphism and Copy Number Variation
... assessed the assumption that the data had a normal distribution using the Shapiro-Wilk normality test to determine the appropriate tests for subsequent statistical ...comparisons. The ... See full document
9
Association of activating KIR copy number variation of NK cells with containment of SIV replication in rhesus monkeys.
... [12]. In contrast to this observation, other studies in humans have demonstrated that the expression of particular KIR molecules was associated with a more favorable HIV-1 disease outcome or ... See full document
12
Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries
... when the relative peak height ratio was below ...samples in the same reaction batch. The DGV data- base ...located in regions with known polymorphic copy number variants ... See full document
8
A preliminary study of copy number variation in Tibetans.
... with the use of genetic markers from SNP, STR, and haplotypes of mitochon- dria, as well as Y ...DNA copy number variation is an important type of genomic variation that can influence ... See full document
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