posted on 2022-09-19, 17:30authored byLuisa Sophie Rajcsanyi, Yiran Zheng, Pamela Fischer-Posovszky, Martin Wabitsch, Johannes Hebebrand, Anke Hinney
<p>This represents the <i>in silico</i> predictions for each variant present in all populations by various tools, namely SIFT [<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0266642#pone.0266642.ref020" target="_blank">20</a>], PROVEAN [<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0266642#pone.0266642.ref024" target="_blank">24</a>], PolyPhen2 [<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0266642#pone.0266642.ref021" target="_blank">21</a>], MutationTaster2021 [<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0266642#pone.0266642.ref022" target="_blank">22</a>] and FATHMM-MKL [<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0266642#pone.0266642.ref023" target="_blank">23</a>]. The tools are ordered by their reported accuracy (left: highest accuracy; right: lowest accuracy) [<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0266642#pone.0266642.ref040" target="_blank">40</a>]. The literature references refer either to a reported clinical case or a functional study.</p> <p>(PDF)</p>