Human copy number polymorphic genes
نویسندگان
چکیده
منابع مشابه
Human copy number polymorphic genes.
Recent large-scale genomic studies within human populations have identified numerous genomic regions as copy number variant (CNV). As these CNV regions often overlap coding regions of the genome, large lists of potentially copy number polymorphic genes have been produced that are candidates for disease association. Most of the current data regarding normal genic variation, however, has been gen...
متن کاملDiversity of human copy number variation and multicopy genes.
Copy number variants affect both disease and normal phenotypic variation, but those lying within heavily duplicated, highly identical sequence have been difficult to assay. By analyzing short-read mapping depth for 159 human genomes, we demonstrated accurate estimation of absolute copy number for duplications as small as 1.9 kilobase pairs, ranging from 0 to 48 copies. We identified 4.1 million...
متن کاملHuman subtelomeric copy number variations.
Copy number variation is a defining characteristic of human subtelomeres. Human subtelomeric segmental duplication regions ('Subtelomeric Repeats') comprise about 25% of the most distal 500 kb and 80% of the most distal 100 kb in human DNA. Huge allelic disparities seen in subtelomeric DNA sequence content and organization are postulated to have an impact on the dosage of transcripts embedded w...
متن کاملCNVrd2: A package for measuring gene copy number, identifying SNPs tagging copy number variants, and detecting copy number polymorphic genomic regions
2 Getting started 3 2.1 Measuring FCGR3B CN . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 5 2.1.1 CNVrd2 object . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 5 2.1.2 Count reads in windows . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 5 2.1.3 Segmentation . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 2.1.4 Obtain co...
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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ژورنال
عنوان ژورنال: Cytogenetic and Genome Research
سال: 2008
ISSN: 1424-8581,1424-859X
DOI: 10.1159/000184713