A machine learning framework for genotyping the structural variations with copy number variant
نویسندگان
چکیده
منابع مشابه
A General Graphical Framework for Detecting Copy Number Variations
Array comparative genomic hybridization (aCGH) allows identification of copy number alterations across genomes. The key computational challenge in analyzing copy number variations (CNVs) using aCGH data or other similar data generated by a variety of array technologies is the detection of segment boundaries of copy number changes and inference of the copy number state for each segment. We have ...
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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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Copy number variations (CNVs) are increasingly understood to affect phenotypic variation. This study uses SNP genotyping of trios of mixed breed swine to add to the catalog of known genotypic variation in an important agricultural animal. PorcineSNP60 BeadChip genotypes were collected from 1802 pigs that combined to form 1621 trios. These trios were from the crosses of 50 boars with 525 sows pr...
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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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Structural variations (SVs) represent a major source of genetic diversity. However, the functional impact and formation mechanisms of SVs in plant genomes remain largely unexplored. Here, we report a nucleotide-resolution SV map of cucumber (Cucumis sativas) that comprises 26,788 SVs based on deep resequencing of 115 diverse accessions. The largest proportion of cucumber SVs was formed through ...
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ژورنال
عنوان ژورنال: BMC Medical Genomics
سال: 2020
ISSN: 1755-8794
DOI: 10.1186/s12920-020-00733-w