Nat Genet
Department of Molecular and Human Genetics at Baylor College of Medicine, Houston, Texas, USA.
Published: October 2014
A new study compares the copy number variants (CNVs) in 29,085 children with developmental delay to those in 19,584 healthy controls, providing a valuable compilation of such data. The phenotypic variability and wide range of penetrance for these variants present societal challenges regarding how these findings might be incorporated into newborn screening, early intervention and, perhaps, carrier testing and prenatal diagnosis.
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http://dx.doi.org/10.1038/ng.3106 | DOI Listing |
Changes in the copy number of large genomic regions, termed copy number variations (CNVs), contribute to important phenotypes in many organisms. CNVs are readily identified using conventional approaches when present in a large fraction of the cell population. However, CNVs that are present in only a few genomes across a population are often overlooked but important; if beneficial under specific conditions, a de novo CNV that arises in a single genome can expand during selection to create a larger population of cells with novel characteristics.
View Article and Find Full Text PDFGenet Med Open
January 2024
Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China.
Purpose: Patients with genetic diseases often seek testing to reach a firm diagnosis. Based on clinical phenotypes, exome sequencing for small-nucleotide variations or array-based methods for copy-number variations (CNVs) are commonly offered to identify the underlying causative genetic variants. In this study, we investigated whether data from a standard ES test could be used to additionally identify pathogenic CNVs and increase diagnostic yield.
View Article and Find Full Text PDFGenet Med
January 2025
Myriad Genetics, Inc, Salt Lake City, UT. Electronic address:
Purpose: Clinically significant copy-number variants (CNVs) occur in 1% to 2% of pregnancies and are difficult to detect via prenatal cell-free DNA (cfDNA) screening because of the low fraction of fetal-derived cfDNA in maternal plasma. Here, we use fetal fraction amplification (FFA) and improved computational algorithms to enhance the resolution and sensitivity of CNV detection.
Methods: We implemented and characterized the performance of a hidden Markov model that identifies fetal CNVs.
Pathology
February 2025
Department of Pathology, Hospital Clínico Universitario, INCLIVA Biomedical Research Institute, Valencia, Spain; Department of Pathology, University of Valencia Avenida Blasco Ibáñez, Spain. Electronic address:
Large nested melanomas (LNMs) are a rare subtype of naevoid melanoma consisting of large junctional melanocytic nests that are more common in older individuals and/or associated with sun damage. However, the presence of large melanocytic nests alone does not lead to a diagnosis of malignancy, as they can also be found in melanocytic naevi. LNMs are challenging because they lack most classic histological features of malignancy and require thorough clinicopathological evaluation.
View Article and Find Full Text PDFGenes (Basel)
September 2024
Farm Animal Genetic Resources Exploration and Innovation Key Laboratory of Sichuan Province, Sichuan Agricultural University, Chengdu 611130, China.
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