Updated EUROCAT guidelines for classification of cases with congenital anomalies

JEH Bergman, A Perraud, I Barišić… - Birth Defects …, 2024 - Wiley Online Library
Background Precise and correct classification of congenital anomalies is important in
epidemiological studies, not only to classify according to etiology but also to group similar …

Artificial intelligence–the next generation of sequencing?

A McNeill - European Journal of Human Genetics, 2024 - nature.com
Many of us recognise that genomic testing is becoming increasingly complex. One proposed
solution to this is genomics multidisciplinary team meetings (MDTs), in which clinicians and …