Results 261 to 270 of about 517,834 (299)

An evolving view of copy number variants

Current Genetics, 2019
Copy number variants (CNVs) are regions of the genome that vary in integer copy number. CNVs, which comprise both amplifications and deletions of DNA sequence, have been identified across all domains of life, from bacteria and archaea to plants and animals.
Stephanie Lauer, David Gresham
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Copy number variants and fetal growth in stillbirths

American Journal of Obstetrics and Gynecology, 2023
Fetal growth abnormalities are associated with a higher incidence of stillbirth, with small and large for gestational age infants incurring a 3 to 4- and 2 to 3-fold increased risk, respectively. Although clinical risk factors such as diabetes, hypertension, and placental insufficiency have been associated with fetal growth aberrations and stillbirth ...
Susan E. Dalton, Tsegaselassie Workalemahu, Amanda A. Allshouse, Jessica M. Page, Uma M. Reddy, George R. Saade, Halit Pinar, Robert L. Goldenberg, Donald J. Dudley, Robert M. Silver   +9 more
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Copy Number Variants

2011
The progression of cytogenetics from banded chromosomes to DNA segment dosage as detected by comparative genomic hybridization-microarray analysis (aCGH, also abbreviated as CMA) has greatly increased the frequency of positive findings and difficulties of interpretation. The technique of aCGH (Fig.
Herman E. Wyandt, Vijay S. Tonk
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Prenatal detection of copy number variants

Best Practice & Research Clinical Obstetrics & Gynaecology
Prenatal detection of copy number variants (CNVs) plays an important role in the diagnosis of fetal genetic abnormalities. Understanding the methods used for prenatal CNV detection and their clinical significance contributes to the implementation of advanced genetic screening techniques in prenatal care; facilitating early identification and management
Mohamed, Wafik, Alice, Pendlebury-Watt, Kelly, Price, Charlotte, Tomlinson, Emma, Fowler, Natalie, Chandler, Muriel, Holder-Espinasse   +6 more
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Copy number variants in autism spectrum disorders

Progress in Neuro-Psychopharmacology and Biological Psychiatry, 2019
In recent years, there has been an explosive increase in genetic studies related to autism spectrum disorder (ASD). This implicated the accumulation of a large amount of molecular data that may be used to verify various hypotheses and models developed to explore the complex genetic component of ASD.
Vicari S., Napoli E., Cordeddu V., Menghini D., Alesi V., Loddo S., Novelli A., Tartaglia M.   +7 more
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Copy Number Variants

Abstract Knowing what is “normal” and what is not is a particular challenge in this era of molecular karyotyping. This chapter discusses the concept of the copy number variant (CNV) and how the harmlessness, or not, of a CNV may be assessed, including the nuanced concept of penetrance as it is applied to neurodevelopmental phenotypes.
David J. Amor, R. J. McKinlay Gardner
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Finding copy-number variants

Nature Methods, 2008
Several studies evaluate high-density single-nucleotide polymorphism (SNP) arrays for the detection of copy-number variations in human genomes.
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Analysis of copy number variants in the cattle genome

Gene, 2011
Copy number variation (CNV) is likely to be an important component of heritable variation in livestock. To characterise CNVs in cattle, we performed a genome wide survey to determine the number, location and gene content of these genomic features. A tiling oligonucleotide array with ~385,000 probes was used for comparative genomic hybridisation of both
Kijas, James W., Barendse, William, Barris, Wes, Harrison, Blair, McCulloch, Russell, McWilliam, Sean, Whan, Vicki   +6 more
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Versatile Identification of Copy Number Variants with Canvas

2018
Versatile and efficient variant calling tools are needed to analyze large-scale sequencing datasets. In particular, identification of copy number changes remains a challenging task due to their complexity, susceptibility to sequencing biases, variation in coverage data and dependence on genome-wide sample properties, such as tumor polyploidy ...
Sergii, Ivakhno, Eric, Roller
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Impact of Copy Number Variants and Polygenic Risk Scores on Psychopathology in the UK Biobank

Biological Psychiatry, 2023
Josephine Mollon, Guillaume Huguet, Aaron F Alexander-Bloch   +2 more
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