Učitavanje...
Uniparental disomy in a population of 32,067 clinical exome trios
PURPOSE: Data on the clinical prevalence and spectrum of uniparental disomy (UPD) remain limited. Trio exome sequencing (ES) presents a comprehensive method for detection of UPD alongside sequence and copy-number variant analysis. METHODS: We analyzed 32,067 ES trios referred for diagnostic testing...
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| Izdano u: | Genet Med |
|---|---|
| Glavni autori: | , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Nature Publishing Group US
2021
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8187148/ https://ncbi.nlm.nih.gov/pubmed/33495530 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-01092-8 |
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