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Comparison of Causative Variant Prioritization Tools Using Next-generation Sequencing Data in Japanese Patients with Mendelian Disorders
BACKGROUND: During the investigation of causative variants of Mendelian disorders using next-generation sequencing, the enormous number of possible candidates makes the detection process complex, and the use of multidimensional methods is required. Although the utility of several variant prioritizat...
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| Udgivet i: | Yonago Acta Med |
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| Main Authors: | , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
YAM
2019
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6739250/ https://ncbi.nlm.nih.gov/pubmed/31582890 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.33160/yam.2019.09.001 |
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