Results 221 to 230 of about 188,720 (256)

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
openaire   +2 more sources

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
openaire   +3 more sources

The Role of Constitutional Copy Number Variants in Breast Cancer [PDF]

Microarrays (Basel, Switzerland), 2015
Constitutional copy number variants (CNVs) include inherited and de novo deviations from a diploid state at a defined genomic region. These variants contribute significantly to genetic variation and disease in humans, including breast cancer susceptibility.
John F Pearson, Logan Walker, George Wiggins   +2 more
exaly   +3 more sources

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
openaire   +1 more source

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.
openaire   +1 more source

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
openaire   +4 more sources

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
openaire   +2 more sources

A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants

American Journal of Psychiatry, 2021
Sébastien Jacquemont, Louise Gallagher, Jeremy Hall   +2 more
exaly  

A Novel Tool for the Analysis and Detection of Copy Number Variants Associated with Haemoglobinopathies

International Journal of Molecular Sciences, 2022
Maria Xenophontos, Celeste Bento, Coralea Stephanou   +2 more
exaly  

Impact of Copy Number Variants and Polygenic Risk Scores on Psychopathology in the UK Biobank

Biological Psychiatry, 2023
Martineau Jean-Louis, Emma Knowles, Josephine Mollon   +2 more
exaly