MOESM1 of Genepanel.iobio - an easy to use web tool for generating disease- and phenotype-associated gene lists
Year: 2019
Type: dataset
Abstract: Additional file 1: Table S1. Summary of the diagnostic analysis for 16 previously diagnosed clinical cases, Table S2. Phenotype descriptions that were given to each analyst, whether each analyst was able to correctly identify the diagnostic gene using genepanel.iobio and a likely rationale for the analysts’.
Source: Figshare
Authors: Ekawade, Aditya, Velinder, Matt, Ward, Alistair, DiSera, Tonya, Miller, Chase, Qiao, Yi, Gabor Marth
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W4394264318