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Human Mutation|February 16, 2022
The impact of GeneMatcher on international data sharing and collaborationAda Hamosh, Elizabeth Wohler, Renan Martin, et al.
BMC Proceedings|December 17, 2016
Comparison of parametric and machine methods for variable selection in simulated Genetic Analysis Workshop 19 dataEmily R Holzinger, Silke Szymczak, James Malley, et al.
Orphanet Journal of Rare Diseases|August 19, 2021
PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence dataElizabeth Wohler, Renan Martin, Sean Griffith, et al.
Human Mutation|February 22, 2022
Variant-level matching for diagnosis and discovery: Challenges and opportunitiesEliete da S Rodrigues, Sean Griffith, Renan Martin, et al.
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