Article
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species.
Nucleic acids research - 8 Jan 2020
Shefchek Kent A, Harris Nomi L, Gargano Michael, Matentzoglu Nicolas, Unni Deepak, Brush Matthew, Keith Daniel, Conlin Tom, Vasilevsky Nicole, Zhang Xingmin Aaron, Balhoff James P, Babb Larry, Bello Susan M, Blau Hannah, Bradford Yvonne, Carbon Seth, Carmody Leigh, Chan Lauren E, Cipriani Valentina, Cuzick Alayne, Della Rocca Maria, Dunn Nathan, Essaid Shahim, Fey Petra, Grove Chris, Gourdine Jean-Phillipe, Hamosh Ada, Harris Midori, Helbig Ingo, Hoatlin Maureen, Joachimiak Marcin, Jupp Simon, Lett Kenneth B, Lewis Suzanna E, McNamara Craig, Pendlington Zoë M, Pilgrim Clare, Putman Tim, Ravanmehr Vida, Reese Justin, Riggs Erin, Robb Sofia, Roncaglia Paola, Seager James, Segerdell Erik, Similuk Morgan, Storm Andrea L, Thaxon Courtney, Thessen Anne, Jacobsen Julius O B, McMurry Julie A, Groza Tudor, Köhler Sebastian, Smedley Damian, Robinson Peter N, Mungall Christopher J, Haendel Melissa A, Munoz-Torres Monica C, Osumi-Sutherland David
Abstract excerpt
In biology and biomedicine, relating phenotypic outcomes with genetic variation and environmental factors remains a challenge: patient phenotypes may not match known diseases, candidate variants may be in genes that haven't been characterized, research organisms may not recapitulate human or veterinary diseases, environmental factors affecting disease outcomes are unknown or undocumented, and many resources must...
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