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Copy number variation in metabolic phenotypes
Cytogenetic and Genome Research, 2008Despite successes in identifying genetic contributors to common metabolic phenotypes, only part of the heritable component of these traits has thus far been explained. Copy number variation (CNV) is likely to be responsible for some of the unexplained variation.
M, Lanktree, R A, Hegele
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Copy number variations in chronic pancreatitis
Cytogenetic and Genome Research, 2008In 1996, shortly after a locus for hereditary pancreatitis had been mapped to chromosome 7q35, an apparent gain-of-function missense mutation, p.R122H, in the cationic trypsinogen gene (<i>PRSS1</i>) was identified. Thereafter, the search for chronic pancreatitis-associated genetic factors has been largely focused on one form of genetic ...
J M, Chen +3 more
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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, 2023Yutaro Hori, Christoph Engel
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Haplotype-aware analysis of somatic copy number variations from single-cell transcriptomes
Nature Biotechnology, 2022Teng Gao, Hirak Sarkar, Adam Kurkiewicz
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