Creation and evaluation of full-text literature-derived, feature-weighted disease models of genetically determined developmental disorders.

Autor: Yates, T.M^1,2 (AUTHOR), Lain, A³ (AUTHOR), Campbell, J^1,4 (AUTHOR), FitzPatrick, D R^1,2,4 (AUTHOR) ian.simpson@ed.ac.uk, Simpson, T I^3,4 (AUTHOR)

Publikováno v: Database: The Journal of Biological Databases & Curation. 2022, Vol. 2022, p1-10. 10p.

Creation and evaluation of full-text literature-derived, feature-weighted disease models of genetically determined developmental disorders

Autor: Yates, T.M, Lain, A., Campbell, J., FitzPatrick, D.R., Simpson, T.I.

Publikováno v: Yates, T M, Lain, A, Campbell, J, FitzPatrick, D R & Simpson, T I 2021 ' Creation and evaluation of full-text literature-derived, feature-weighted disease models of genetically determined developmental disorders ' . https://doi.org/10.1101/2021.11.04.21265878

There are >2500 different genetically-determined developmental disorders (DD), which, as a group, show very high levels of both locus and allelic heterogeneity. This has led to the wide-spread use of evidence-based filtering of genome-wide sequence d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3094::6b403384324096142d2851cdfa188b45
https://www.pure.ed.ac.uk/ws/files/249442850/Creation_an_Evaluation_YATES_PREPRINT_CC_BY_NC_ND.pdf

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Biallelic variants in GLE1 with survival beyond neonatal period

Autor: Yates, T.M., Campeau, P.M., Ghoumid, J., Kibaek, M., Larsen, M.J., Smol, T., Albaba, S., Hertz, J.M., Balasubramanian, M.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::f22c2d703fae426a4b8721544f1a3e87
https://eprints.whiterose.ac.uk/174967/3/GLE1_edletter_v2.pdf

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