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Identifying Human Genome-Wide CNV, LOH and UPD by Targeted Sequencing of Selected Regions
Copy-number variations (CNV), loss of heterozygosity (LOH), and uniparental disomy (UPD) are large genomic aberrations leading to many common inherited diseases, cancers, and other complex diseases. An integrated tool to identify these aberrations is essential in understanding diseases and in design...
Autores principales: | , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4412667/ https://www.ncbi.nlm.nih.gov/pubmed/25919136 http://dx.doi.org/10.1371/journal.pone.0123081 |