Copy Number Variants, Aneuploidies, and Human Disease
نویسندگان
چکیده
منابع مشابه
Copy Number Variants in Alzheimer’s Disease
Alzheimer's disease (AD) is a devastating disease mainly afflicting elderly people, characterized by decreased cognition, loss of memory, and eventually death. Although risk and deterministic genes are known, major genetics research programs are underway to gain further insights into the inheritance of AD. In the last years, in particular, new developments in genome-wide scanning methodologies ...
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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...
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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 کاملCopy-number Analysis and Human Disease
We study variations in the human genome that arise when a large segment of the genome is duplicated or deleted. Such copy-number variations, or CNVs, can arise somatically or in the germ line. The former are often seen in cancer and distinguish cancers from the normal cells of the body, in which case, they provide clues for the origin and behavior of the cancers. The latter, germ-line CNVs, dis...
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Copy number variants (CNVs) are widely distributed throughout the human genome, where they contribute to genetic variation and phenotypic diversity. Spontaneous CNVs are also a major cause of genetic and developmental disorders and arise frequently in cancer cells. As with all mutation classes, genetic and environmental factors almost certainly increase the risk for new and deleterious CNVs. Ho...
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ژورنال
عنوان ژورنال: Clinics in Perinatology
سال: 2015
ISSN: 0095-5108
DOI: 10.1016/j.clp.2015.03.001