What is AI and what is Next-Generation Phenotyping?

Artificial intelligence (AI) refers to computer-based methods that can detect patterns and support decision-making. In medical genetics, AI can analyze clinical data and patient images to assist with diagnosis.

Biesecker et al. (2012; PMID: 22457028) were one of the first to introduce Next-Generation Phenotyping (NGP), which describes a systematic, large-scale analysis of phenotypic datasets using advanced computer vision methods. NGP is similar in concept to Next-Generation Sequencing (NGS) which enables highly parallelized, large-scale data collection. For large datasets, the raw data alone are not useful without computational methods to extract meaningful patterns. Thus, bioinformatics is required to interpret the data.

GestaltMatcher applies NGP by recognizing characteristic facial patterns and integrating phenotypic information with genetic testing, supporting faster and more accurate diagnoses.