Copy number variants (CNVs)
Genome-wide association study of copy number variants suggests LTBP1 and FGD4 are important for alcohol drinking.
... Alcohol dependence (AD) is a complex disorder characterized by psychiatric and physiological dependence on alcohol. AD is reflected by regular alcohol drinking, which is highly inheritable. In this study, to identify ...
6
Haplotype phasing and inheritance of copy number variants in nuclear families.
... DNA copy number variants (CNVs) that alter the copy number of a particular DNA segment in the genome play an important role in human phenotypic variability and disease suscepti- ...A ...
21
Detection of copy number variants reveals association of cilia genes with neural tube defects.
... A number of candidate genes from mouse NTDs were screened in humans, but so far only the MTHFR polymorphism and pathogenic mutations of the planar cell polarity (PCP) core gene were shown to be consistently ...
13
Fast Bayesian Inference of Copy Number Variants using Hidden Markov Models with Wavelet Compression.
... By integrating Haar wavelets with Hidden Markov Models, we achieve drastically reduced running times for Bayesian inference using Forward-Backward Gibbs sampling. We show that this improves detection of genomic ...
28
Copy number variants in patients with severe oligozoospermia and Sertoli-cell-only syndrome.
... 217 variants were compared between the study groups (Table S3 and Table ...private variants summarised in Table ...2. Number of CNVs (A), duplications (B) and ...
11
Identification of copy number variants defining genomic differences among major human groups.
... in copy number among human populations are characterized by a different selective regime in the ‘recent’ evolutionary history, which could be consistent with a role in environment ...
13
Dosage sensitivity shapes the evolution of copy-number varied regions.
... large copy-number variants (CNVs) ...a number of cases signal transduction ...that copy-number variability is negatively correlated with protein interaction network metrics such ...
10
Copy number variation of individual cattle genomes using next-generation sequencing
... We performed extensive experimental validation to confirm in- dividual copy number variants, including aCGH, quantitative PCR (qPCR), and fluorescent in situ hybridization (FISH). We performed four ...
14
CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing.
... Germline copy number variants (CNVs) and somatic copy number alterations (SCNAs) are of significant importance in syndromic conditions and ...infer copy number information ...
18
Robust regression analysis of copy number variation data based on a univariate score.
... Copy number variants were called using the NimbleScan (NS) software package version 2.4, an implementation of circular binary segmentation analysis, distributed by Nimblegen. Each sub-array was ...
8
Microarray-based maps of copy-number variant regions in European and sub-Saharan populations.
... Genomic Variants (DGV – current version: ...autosomal copy number events reported in the DGV, 11545 clustered in CNVRs as defined by the ...and number of CNVs between populations for Birdseye ...
8
A genome-wide investigation of copy number variation in patients with sporadic brain arteriovenous malformation.
... previous study [55], we identified a statistically significant increase in the number of CNVs detected in blood DNA specimens compared to saliva DNA specimens among cases. However, since case-control differences ...
9
Characterization of hobo element copy number and integrity in Brasilian populations of Drosophila melanogaster
... on copy number and of each ...the copy numbers of hobo elements and mean annual temperatures in the original geographi- cal region of each ...
4
Transposable elements P and gypsy in natural populations of Drosophila willistoni
... element copy number was estimated by considering two bands to equal one copy because since XhoI recognizes one internal site in the ca- nonical P element sequence of ...element copy ...
6
Identification of genome-wide copy number variations among diverse pig breeds using SNP genotyping arrays.
... genes, copy number change of these immune- related genes, such as defensins and SERPINA3, may have a great influence on pathogen monitoring and disease resistance of diverse ...
8
Copy number variation and transposable elements feature in recent, ongoing adaptation at the Cyp6g1 locus.
... involving copy number variation of Cyp6g1, and two additional transposable element insertions (a P and an ...contrast, copy number variation for another candidate resistance gene, Cyp12d1, is ...
11
Rev. Bras. Hematol. Hemoter. vol.38 número2
... Alternative methods for detecting genetic alterations in multiple myeloma samples. aCGH is an alternative technology to test copy number varia-[r] ...
2
Assessing Mitochondrial DNA Variation and Copy Number in Lymphocytes of ~2,000 Sardinians Using Tailored Sequencing Analysis Tools.
... DNA variants, including many associated with complex diseases and quantitative traits ...a number of instances (see Discussion) in which scoring allelic variation is more complicated, because there are more ...
18
CG9925 and CG9684 are homologues of the TDRD1 piRNA protein family and occupy different subcellular compartments in the Drosophila germline
... TABOR copy numbers increase around 80- 90 fold when CG9684-IR is expressed under the control of ...(genomic copy number) because we found that our samples average copy number was ...
80
An Inherited Small Microdeletion at 15q13.3 in a Patient with Early- Onset Obsessive-Compulsive Disorder
... rare variants in genes involved in synaptogenesis, neuronal and axonal mobility, protein degradation via the ubiquitin-proteasome system (ubiquitin signaling), protein com- plexes and postsynaptic signaling ...
6