Bioinformatics

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Desperate Needs for Better Computational Tools

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Watch a YouTube video (~60min), hosted by the GSA (Genetics Society of America), about how one can use MARRVEL to facilitate rare and undiagnosed disease research.

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Read an article (Neff, 2021) which discusses why we need to catalyze more collaborations using tools like ModelMatcher

Harnish JM, Li L, Rogic S, Poirier-Morency G, Kim S-Y, Undiagnosed Diseases Network, Boycott KM, Wangler MF, Bellen HJ, Hieter P, Pavlidis P, Liu Z, Yamamoto S† (2022) ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research. Hum Mutat. 43(6): 743-759. PMID: 35224820. PMCID: PMC9133126. (†corresponding author).
Wang J, Mao D, Fazal F, Kim SY, Yamamoto S, Bellen H, Liu Z (2019) Using MARRVEL v1.2 for Bioinformatics Analysis of Human Genes and Variant Pathogenicity. Curr Protoc Bioinformatics. 67(1):e85. PMID: 31524990. PMCID: PMC6750039.
Wang J, Undiagnosed Diseases Network, Liu Z, Bellen HJ, Yamamoto S† (2019) Navigating MARRVEL, a web-based tool that integrates human genomics and model organism genetics information. J Vis Exp (150):10.3791/59542. PMID: 31475990, PMCID: PMC7401700. (†corresponding author).
Wang J, Al-Ouran R, Hu Y, Kim S-Y, Wan Y-W, Wangler MF, Yamamoto S, Chao H-T, Comjean A, Mohr SE, Members of UDN, Perrimon N, Liu Z, Bellen HJ (2017) MARRVEL: Integration of human and model organism genetic resources to facilitate functional annotation of the human genome. Am J Hum Genet. 100:843-853. PMID: 28502612. PMCID: PMC5670038.