Multiplexed assays of variant effect for clinical variant interpretation
Chen, E. et al. Rates and classification of variants of uncertain significance in hereditary disease genetic testing. JAMA…
Therapeutic strategies for fragile X syndrome and implications for other gene-silencing disorders
Ng, S. B. et al. Exome sequencing identifies the cause of a Mendelian disorder. Nat. Genet. 42, 30–35…
Mapping trait-associated cells with spatial transcriptomics
Genome-wide association studies (GWAS) have uncovered numerous genetic variants associated with complex traits. However, a critical gap remains…