Fig. 3.

Discovery of disease-causing genes and mechanisms. Curated public databases assemble a wealth of patient-based sequencing data, genetic and phenotype information, and more. These data enable analyses of the intersection of diseases with related phenotypes and developmental similarities, such as LPM-centered anomalies. The developmental function of gene loss or gain of function, polymorphisms and other genetic changes are then testable in model systems, such as animal models that carry orthologs of human disease-associated human genes or patient-derived in vitro models. CPF, cardiopharyngeal field; LPM, lateral plate mesoderm; MARRVEL, Model organism Aggregated Resources for Rare Variant ExpLoration; OMIM, Online Mendelian Inheritance in Man.