Results 261 to 270 of about 475,380 (299)

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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Sudden Cardiac Death and Copy Number Variants: What Do We Know after 10 Years of Genetic Analysis?

Forensic Science International: Genetics, 2020
Over the last ten years, analysis of copy number variants has increasingly been applied to the study of arrhythmogenic pathologies associated with sudden death, mainly due to significant advances in the field of massive genetic sequencing.
J. Matés, I. Mademont-Soler, Anna Fernández-Falgueras, G. Sarquella-Brugada, S. César, E. Arbelo, A. García-Álvarez, Paloma Jordà, R. Toro, M. Coll, V. Fiol, A. Iglesias, Alexandra Pérez-Serra, B. Olmo, M. Alcalde, Marta Puigmulé, Ferran Picó, Laura López, Carles Ferrer, C. Tirón, S. Grassi, A. Oliva, J. Brugada, R. Brugada, Ó. Campuzano   +24 more
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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

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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Characteristics and mode of inheritance of pathogenic copy number variants in prenatal diagnosis.

American Journal of Obstetrics and Gynecology, 2019
BACKGROUND Microdeletions and microduplications can occur in any pregnancy independent of maternal age. The spectrum and features of pathogenic copy number variants including the size, genomic distribution and mode of inheritance are not well studied ...
M. Chau, Ye Cao, Ka Yin Yvonne Kwok, S. Chan, Yiu Man Chan, Huilin Wang, Zhenjun Yang, H. Wong, T. Leung, K. Choy   +9 more
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Copy number variants in hypoplastic right heart syndrome

American Journal of Medical Genetics Part A, 2018
Hypoplastic right heart syndrome (HRHS) is a rare congenital defect characterized by underdeveloped and malformed structures of the right heart. Familial recurrence of HRHS indicates genetic factors contribute to its etiology. Our study investigates the presence of copy number variants (CNVs) in HRHS cases.
Andreas Giannakou, Robert J. Sicko, Denise M. Kay, Wei Zhang, Paul A. Romitti, Michele Caggana, Gary M. Shaw, Laura L. Jelliffe‐Pawlowski, James L. Mills   +8 more
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A Projection Neural Network for Identifying Copy Number Variants

IEEE journal of biomedical and health informatics, 2019
The identification of copy number variations (CNVs) helps the diagnosis of many diseases. One major hurdle in the path of CNVs discovery is that the boundaries of normal and aberrant regions cannot be distinguished from the raw data, since various types ...
M. Mohammadi, A. Mansoori
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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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Copy Number Variants and Epilepsy: New Emerging Syndromes

2014
In the last 10 years, advances in the genetic techniques including oligonucleotide array and the following large scale studies have yielded to the identification of recurrent copy number variants (CNVs) associated with epilepsy. Among these a small number has been increasingly reported in association with a distinct epileptic phenotype, delineating ...
Coppola, A., Elia, M.
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Copy number variants in schizophrenia

Pharmacopsychiatry, 2011
I Giegling, AM Hartmann, H Konnerth, B Konte, M Friedl, HJ Möller, D Rujescu   +6 more
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