Summary: The largest and most diverse study on recessive genetic changes in developmental disorders reveals that over 80% of cases caused by recessive variants are linked to known genes. Researchers analyzed data from nearly 30,000 families and found that a shift in focus from gene discovery to interpreting changes in known genes could double diagnosis rates.
The study highlights the importance of genetic background in diagnosis and suggests that some patients may have multiple contributing genetic factors. These findings could lead to more personalized and accurate diagnoses for families affected by developmental disorders.
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