Molecular genetics of J-domain protein-related chaperonopathies in skeletal muscle
Kampinga HH, Andreasson C, Barducci A, Cheetham ME, Cyr D, Emanuelsson C, et al. Function, evolution, and structure…
Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients
Cohort characteristics and model risk score distribution The study cohort comprised 92,493 patients enrolled in the DT Biobank…
Viromics approaches for the study of viral diversity and ecology in microbiomes
Koonin, E. V., Kuhn, J. H., Dolja, V. V. & Krupovic, M. Megataxonomy and global ecology of the…
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…