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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Bibliografiska uppgifter
I publikationen:Yonago Acta Med
Huvudupphovsmän: Ebiki, Mitsutaka, Okazaki, Tetsuya, Kai, Masachika, Adachi, Kaori, Nanba, Eiji
Materialtyp: Artigo
Språk:Inglês
Publicerad: YAM 2019
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Original Article
Länkar: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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