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Copy number variations and fetal ventriculomegaly
Current Opinion in Obstetrics & Gynecology, 2018Purpose of review Ventriculomegaly is one of the most common abnormal sonographic findings, which is associated with congenital infection, chromosomal and additional structural abnormalities. Currently, karyotype analysis is the primary method to detect chromosomal abnormalities in fetuses with ventriculomegaly.
Yan, Wang, Ping, Hu, Zhengfeng, Xu
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Copy number variations and cancer susceptibility
Current Opinion in Oncology, 2010DNA copy number variations (CNVs) comprise a recently discovered element of genetic variation that affects a greater cumulative fraction of the genome than single-nucleotide polymorphisms (SNPs). This review discusses current understanding of the characteristics of CNVs in the human genome and explores the emerging discoveries of both constitutional ...
Adam, Shlien, David, Malkin
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Copy Number Variations in Tilapia Genomes
Marine Biotechnology, 2017Discovering the nature and pattern of genome variation is fundamental in understanding phenotypic diversity among populations. Although several millions of single nucleotide polymorphisms (SNPs) have been discovered in tilapia, the genome-wide characterization of larger structural variants, such as copy number variation (CNV) regions has not been ...
Bi Jun, Li +6 more
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Bioinformatics for Copy Number Variation Data
2011Copy number variation is known to be an important component of structural variation in the human genome. Greater than 1 kb in size, these gains and losses of genetic material are known to confer risk to many human diseases, both Mendelian and complex. Therefore, the technologies used to detect copy number variation have been quickly improving in both ...
Melissa, Warden +3 more
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Regulation of ribosomal RNA gene copy number, transcription and nucleolus organization in eukaryotes
Nature Reviews Molecular Cell Biology, 2023Christoph Engel
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Spatially resolved clonal copy number alterations in benign and malignant tissue
Nature, 2022Mengxiao He +2 more
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Pan-genome analysis of 33 genetically diverse rice accessions reveals hidden genomic variations
Cell, 2021Shujun Ou, Yi Liao, Qiang Gao
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