Article

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

2021-11-05

Abstract excerpt

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 data as a diagnostic tool in DD. Determining whether the association of a filtered variant at a specific locus is a plausible explanation of the phenotype in the proban...

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Literature Corpus work: 4f5ecfce-53ab-52ce-ba1a-f5030762f748
DOI: 10.1101/2021.11.04.21265878

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