Mammalian Genome, Год журнала: 2025, Номер unknown

Опубликована: Март 18, 2025

Abstract Congenital anomalies are structural or functional abnormalities present at birth, which can be caused by genetic environmental influences. The availability of genome sequencing has significantly increased our understanding congenital anomalies, but linking variant identification to relevance and definitive diagnosis remains challenging. Many genes have unknown poorly understood functions, with a lack clear genotype-to-phenotype correlations, it difficult move from discovery diagnosis. Thus, for most there still exists “diagnostic odyssey” presents significant burden patients, families society. Animal models essential in the gene process because they allow researchers validate candidate function disease progression within intact organisms. However, use advanced model systems continues limited due complexity efficiently generating clinically relevant animals. Here we focus on precisely engineered mice variant-to-function studies resolving molecular diagnoses creating powerful preclinical covering advances genomics, editing phenotyping approaches as well necessity future initiatives aligning animal modelling deep patient multimodal datasets.

Язык: Английский