Modeling genetic inheritance of copy number variations

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Modeling genetic inheritance of copy number variations

Copy number variations (CNVs) are being used as genetic markers or functional candidates in gene-mapping studies. However, unlike single nucleotide polymorphism or microsatellite genotyping techniques, most CNV detection methods are limited to detecting total copy numbers, rather than copy number in each of the two homologous chromosomes. To address this issue, we developed a statistical framew...

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Population-genetic properties of differentiated copy number variations in cattle.

While single nucleotide polymorphism (SNP) is typically the variant of choice for population genetics, copy number variation (CNV) which comprises insertion, deletion and duplication of genomic sequence, is an informative type of genetic variation. CNVs have been shown to be both common in mammals and important for understanding the relationship between genotype and phenotype. However, CNV diff...

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Learning the Genetic Causes for Schizophrenia through Copy - Number Variations

Schizophrenia is a mental disorder that causes lifelong disability. The most common symptoms are auditory hallucinations, paranoia, and delusions. At least 1% of Americans have this illness. [1] Factors that cause schizophrenia are both genetic and non-genetic. Research has shown that gene plays a significant role in schizophrenia through studies on twins. However, the genetic aberrations assoc...

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Human 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...

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New Copy Number Variations in Schizophrenia

Genome-wide screenings for copy number variations (CNVs) in patients with schizophrenia have demonstrated the presence of several CNVs that increase the risk of developing the disease and a growing number of large rare CNVs; the contribution of these rare CNVs to schizophrenia remains unknown. Using Affymetrix 6.0 arrays, we undertook a systematic search for CNVs in 172 patients with schizophre...

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ژورنال

عنوان ژورنال: Nucleic Acids Research

سال: 2008

ISSN: 1362-4962,0305-1048

DOI: 10.1093/nar/gkn641