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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書誌詳細
出版年:NPJ Genom Med
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group 2016
主題:
Article
オンライン･アクセス: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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