Results 271 to 280 of about 125,484 (288)

Predictive value of recurrent DNA copy number variations

2008 IEEE International Workshop on Genomic Signal Processing and Statistics, 2008
Recurrent copy number variations across multiple samples are increasingly used to identify the genes and the genomic locations that are statistically and biologically significant and correlated with certain diseases. In this paper, we evaluate the predictive power of copy number variations for detecting autism.
Abdullah K. Algallaf, Ahmed H. Tewfik, Scott B. Selleck, Rebecca L. Johnson   +3 more
exaly   +2 more sources

PCR-Based Detection of DNA Copy Number Variation

2016
Copy number variations are important polymorphisms that can influence gene expression within and close to the rearranged region, and results in phenotypic variation. Techniques that detect abnormalities in DNA copy number are therefore useful for studying the associations between DNA aberrations and disease phenotype and for locating critical genes ...
openaire   +2 more sources

Copy Number Variation Analysis on Cell-Free Serum DNA

2018
Genome diversity comprises single nucleotide polymorphisms, deletions, insertions, and duplications. These gains and losses of DNA segments leading to rearrangements of sequences are termed copy number variations (CNVs). CNVs may disrupt genes and/or alter gene dosage and, thereby, have an impact on both protein-coding and noncoding genes. Accordingly,
openaire   +2 more sources

DNA copy number variations are important in the complex genetic architecture of müllerian disorders

Fertility and Sterility, 2015
To clinically and genetically investigate women with müllerian disorders, including Mayer-Rokitanksy-Kuster-Hauser (MRKH) syndrome.Two-year prospective clinical and laboratory study.Not applicable.Thirty-five women over 16 years of age with a müllerian disorder, including MRKH.Women were recruited from specialist gynecology clinics or identified from ...
Ruth, McGowan, Graham, Tydeman, David, Shapiro, Tracey, Craig, Norma, Morrison, Susan, Logan, Adam H, Balen, S Faisal, Ahmed, Miriam, Deeny, John, Tolmie, Edward S, Tobias   +10 more
openaire   +2 more sources

Interest Rises in DNA Copy Number Variations--Along With Questions

Science, 2008
At the annual meeting of the American Society of Human Genetics last week, the hot topic was duplicated or missing blocks of DNA, known as copy number variations--the study of which, like any emerging field, is plagued by uncertainty.
openaire   +1 more source

Multiple‐level copy number variations in cell‐free DNA for prognostic prediction of HCC with radical treatments

Cancer Science, 2021
Dongnan Guo, Xiwen Gu, Jinliang Xing
exaly  

sciCNV: high-throughput paired profiling of transcriptomes and DNA copy number variations at single-cell resolution

Briefings in Bioinformatics, 2022
Ali Mahdipour Shirayeh, Rodger Tiedemann, Tiedemann Rodger E   +2 more
exaly  

Mitochondrial DNA Copy Number and Incident Heart Failure

Circulation, 2020
Megan Grove, Eric Boerwinkle, Dan Arking   +2 more
exaly  

DNA Copy Number Variations in Patients with 46,XY Disorders of Sex Development

Journal of Urology, 2014
Linda Baker, Gwen M Grimsby, Melise Keays   +2 more
exaly  

Polycyclic aromatic hydrocarbon exposure, miRNA genetic variations, and associated leukocyte mitochondrial DNA copy number: A cross-sectional study in China

Chemosphere, 2020
Changqing Sun, , Wu Yao
exaly