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Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic testing
PURPOSE: Structural variation (SV) is associated with inherited diseases. Next-generation sequencing (NGS) is an efficient method for SV detection because of its high-throughput, low cost, and base-pair resolution. However, due to lack of standard NGS protocols and a limited number of clinical sampl...
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| Yayımlandı: | Genet Med |
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| Asıl Yazarlar: | , , , , , , , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Nature Publishing Group US
2018
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6752280/ https://ncbi.nlm.nih.gov/pubmed/30563988 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-018-0397-6 |
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