Copy number variants in the population: Unselected does not mean unaffected
نویسندگان
چکیده
منابع مشابه
mitochondrial copy number and d-loop variants in pompe patients
objective: pompe disease is a rare neuromuscular genetic disorder and is classified into two forms of early and late-onset. over the past two decades, mitochondrial abnormalities have been recognized as an important contributor to an array of neuromuscular diseases. we therefore aimed to compare mitochondrial copy number and mitochondrial displacement-loop sequence variation in infantile and ad...
متن کاملDetecting Highly Differentiated Copy-Number Variants from Pooled Population Sequencing
Copy-number variants (CNVs) represent a functionally and evolutionarily important class of variation. Here we take advantage of the use of pooled sequencing to detect CNVs with large differences in allele frequency between population samples. We present a method for detecting CNVs in pooled population samples using a combination of paired-end sequences and read-depth. Highly differentiated CNVs...
متن کاملCopy number variants and pharmacogenomics.
The earliest pharmacogenomic studies focused on highly penetrant sequence polymorphisms in drug-metabolizing enzymes. The recent discovery of the widespread occurrence of copy number variants/polymorphisms in the human genome holds promise for new pharmacogenomic discoveries, aside from the commonly used single nucleotide polymorphism approach. Here we review the discovery of copy number varian...
متن کاملIncreased mtDNA Copy Number Does Not Protect Against LHON.
We read with interest the article by Bianco et al. about the mitochondrial DNA (mtDNA) copy number in 12 patients with Leber’s hereditary optic neuropathy (LHON) and 18 asymptomatic carriers of the primary LHON mutations m.11778G>A and m.3460G>A, respectively. The authors interpreted the increased mtDNA copy number in lymphocytes as a protective effect in LHON mutation carriers. We have the fol...
متن کاملOn the frequency of copy number variants
MOTIVATION Estimating the frequency distribution of copy number variants (CNVs) is an important aspect of the effort to characterize this new type of genetic variation. Currently, most studies report a strong skew toward low-frequency CNVs. In this article, our goal is to investigate the frequencies of CNVs. We employ a two-step procedure for the CNV frequency estimation process. We use family ...
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ژورنال
عنوان ژورنال: Epilepsy Currents
سال: 2016
ISSN: 1535-7597,1535-7511
DOI: 10.5698/1535-7511-16.2.91