Clinical detection of deletion structural variants in whole-genome sequences

Optimal management of acutely ill infants with monogenetic diseases requires rapid identification of causative haplotypes. Whole-genome sequencing (WGS) has been shown to identify pathogenic nucleotide variants in such infants. Deletion structural variants (DSVs, >50 nt) are implicated in many ge...

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Bibliografski detalji
Izdano u:NPJ Genom Med
Glavni autori: Noll, Aaron C, Miller, Neil A, Smith, Laurie D, Yoo, Byunggil, Fiedler, Stephanie, Cooley, Linda D, Willig, Laurel K, Petrikin, Josh E, Cakici, Julie, Lesko, John, Newton, Angela, Detherage, Kali, Thiffault, Isabelle, Saunders, Carol J, Farrow, Emily G, Kingsmore, Stephen F
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2016
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Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5685307/
https://ncbi.nlm.nih.gov/pubmed/29263817
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/npjgenmed.2016.26
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