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Accurate detection of clinically relevant uniparental disomy from exome sequencing data
PURPOSE: Uniparental disomy (UPD) is the rare occurrence of two homologous chromosomes originating from the same parent and is typically identified by marker analysis or single-nucleotide polymorphism (SNP)-based microarrays. UPDs may lead to disease due to imprinting effects, underlying homozygous...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group US
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118024/ https://www.ncbi.nlm.nih.gov/pubmed/31767986 http://dx.doi.org/10.1038/s41436-019-0704-x |