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Rare disease variant prioritisation software

Exomiser

Next-generation diagnostics and disease-gene discovery with the Exomiser.

Smedley D, Jacobsen JO, Jäger M, Köhler S, Holtgrewe M, Schubach M, Siragusa E, Zemojtel T, Buske OJ, Washington NL, Bone WP, Haendel MA, Robinson PN.

Nat Protoc. 2015 Dec;10(12):2004-15.

Software and source code is available at GitHub.

RShiny interfaces

MorPhiC gene list interface

Explore the genes being studied by the MorPhiC consortium.

Software and source code is available at GitHub.

Catalogue of lethality in humans

Explore the genes that lead to lethality when disrupted.

Software and source code is available at GitHub.