Results 31 to 40 of about 3,549,870 (295)
Copy Number Variation: Methods and Clinical Applications
Applied Sciences, 2021 Gains and losses of large segments of genomic DNA, known as copy number variants (CNVs) gained considerable interest in clinical diagnostics lately, as particular forms may lead to inherited genetic diseases.
Ondrej Pös +8 more
doaj +1 more source
Copy number variation in African Americans
BMC Genetics, 2009 Background Copy number variants (CNVs) have been identified in several studies to be associated with complex diseases. It is important, therefore, to understand the distribution of CNVs within and among populations.
Caillier Stacy J +3 more
doaj +1 more source
BMC Medical Genetics, 2020 Background Dedifferentiated liposarcoma (DDLPS), which accounts for an estimated 15–20% of liposarcomas, is a high-grade and aggressive malignant neoplasm, exhibiting a poor response to available therapeutic agents.
Yoon-Seob Kim +3 more
doaj +1 more source
Copy number variation across European populations.
PLoS ONE, 2011 Genome analysis provides a powerful approach to test for evidence of genetic variation within and between geographical regions and local populations. Copy number variants which comprise insertions, deletions and duplications of genomic sequence provide ...
Wanting Chen +10 more
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Copy Number Variation at the APOL1 Locus. [PDF]
PLoS ONE, 2015 Two coding variants in the APOL1 gene (G1 and G2) explain most of the high rate of kidney disease in African Americans. APOL1-associated kidney disease risk inheritance follows an autosomal recessive pattern: The relative risk of kidney disease ...
Rupam Ruchi +9 more
doaj +1 more source
Copy Number Variation in Inflammatory Breast Cancer
Cells, 2023 Identification of a unique genomic biomarker in de novo inflammatory breast cancer (IBC) may provide an insight into the biology of this aggressive disease. The goal of our study was to elucidate biomarkers associated with IBC.
Aditi Hazra +7 more
doaj +1 more source
Including copy number variation in association studies to predict genotypic values [PDF]
, 2010 The objective of this study was to investigate, both empirically and deterministically, the ability to explain genetic variation resulting from a copy number polymorphism (CNP) by including the CNP, either by its genotype or by a continuous derivation ...
Calus, M.P.L. +2 more
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Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism [PDF]
, 2016 Copy number variation (CNV) is a potential contributing factor to many genetic diseases. Here we investigated the potential association of CNV with nonsyndromic cryptorchidism, the most common male congenital genitourinary defect, in a Caucasian ...
Abrams, Debra J. +17 more
core +1 more source
Adaptive copy number evolution in malaria parasites. [PDF]
PLoS Genetics, 2008 Copy number polymorphism (CNP) is ubiquitous in eukaryotic genomes, but the degree to which this reflects the action of positive selection is poorly understood.
Shalini Nair +9 more
doaj +1 more source
Performance of four modern whole genome amplification methods for copy number variant detection in single cells [PDF]
, 2017 Whole genome amplification (WGA) has become an invaluable tool to perform copy number variation (CNV) detection in single, or a limited number of cells.
Cornelis, Senne +5 more
core +1 more source