GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases
Hellen Lesmann, Alexander Hustinx, Shahida Moosa, Hannah Klinkhammer, Elaine J. Marchi, Pilar Caro, Ibrahim M. Abdelrazek, Jean Tori Pantel, Merle ten Hagen, Meow‐Keong Thong, Rifhan Azwani Mazlan, Sok Kun Tae, Tom Kamphans, Wolfgang Meiswinkel, Jingmei Li, , Miray Karakoyun
The paper introduces the GestaltMatcher Database (GMDB), a global facial phenotypic reference for rare diseases, showing improved NGP performance with diverse ancestry data.
medRxiv · Jun 6, 2023 · PreprintGenetic & Genomic Medicine