Results 251 to 260 of about 125,484 (288)

Causal associations between mitochondrial DNA copy number and gastrointestinal diseases: A Mendelian randomization study. [PDF]

Medicine (Baltimore)
Wang Z, Yang Z, Zhou Y.
europepmc   +1 more source

Genome evolution through polyploidy: Enhancing plant stress resilience in agriculture. [PDF]

Proc Natl Acad Sci U S A
Edger PP, Body MJA, De Donno S, Platts AE, Wang J, Jiang J.   +5 more
europepmc   +1 more source

Abnormal Ultrasonography Overcomes NIPT's Inherent Limitations: Revealing Two Cases of NIPT False Negatives Caused by Trisomy 21 Mosaicism and a Literature Review. [PDF]

Int J Womens Health
Mu Y, Jing Y, Liu X, Lin F, He Q, Li Y, Ming X, Chen G, Wang Y, Zhu T.   +9 more
europepmc   +1 more source

Inferring tumor absolute copy number and clonal substructure from single-cell chromatin accessibility. [PDF]

Brief Bioinform
Wang Y, Deng Y, Li H, Yin X, Zhang Y, Chen Y, Zhang M, Wang X, Cao Z, Zhang S.   +9 more
europepmc   +1 more source

Statistical issues in the analysis of DNA Copy Number Variations [PDF]

International Journal of Computational Biology and Drug Design, 2008
Approaches to assess copy number variation have advanced rapidly and are being incorporated into genetic studies. While the technology exists for CNV genotyping, a further understanding and discussion of how to use the CNV data for association analyses is warranted. We present the options available for processing and analysing CNV data.
Mary K, Richard Kennedy, Hemant Tiwari   +2 more
exaly   +3 more sources

The screening and ranking algorithm to detect DNA copy number variations

Annals of Applied Statistics, 2012
DNA Copy number variation (CNV) has recently gained considerable interest as a source of genetic variation that likely influences phenotypic differences. Many statistical and computational methods have been proposed and applied to detect CNVs based on data that generated by genome analysis platforms.
Heping Zhang
exaly   +6 more sources

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DNA Copy Number Variations in Patients with Persistent Cloaca

Journal of Urology, 2014
Persistent cloaca is a devastating female anomaly associated with renal insufficiency/failure, urinary and fecal incontinence and müllerian dysfunction. Genetically engineered murine models of persistent cloaca suggest that this anomaly could have a genetic component in humans.
Linda Baker, Casey Seideman
exaly   +3 more sources

The Role of DNA Copy Number Variation in Schizophrenia

Biological Psychiatry, 2009
Schizophrenia is a major psychiatric disease with strong evidence of genetic risk factors. Recent studies based on genome-wide study of copy number variations (CNVs) have detected novel recurrent submicroscopic copy number changes, including recurrent deletions at 1q21.11, 15q11.3, 15q13.3, and the recurrent CNV at the 2p16.3 neurexin 1 locus.
Gloria W C, Tam, Richard, Redon, Nigel P, Carter, Seth G N, Grant   +3 more
openaire   +2 more sources

Role of DNA copy number variation in dyslipidemias

Current Opinion in Lipidology, 2018
Purpose of review DNA copy number variations (CNVs) are quantitative structural rearrangements that include deletions, duplications, and higher order amplifications. Because of technical limitations, the contribution of this common form of genetic variation to regulation of lipid metabolism and dyslipidemia has been ...
Michael A, Iacocca, Robert A, Hegele
openaire   +2 more sources