Towards improved fine-mapping of candidate causal variants
Visscher, P. M. et al. 10 years of GWAS discovery: biology, function, and translation. Am. J. Hum. Genet.…
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…
Machine learning reveals complex genetics of fungal resistance in sorghum grain mold
Ackerman A, Wenndt A, Boyles R (2021) The sorghum grain mold disease complex: pathogens, host responses, and the…
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…
Artificial intelligence for diagnosing rare bone diseases: a global survey of healthcare professionals | Orphanet Journal of Rare Diseases
Of the 125 participants who began the survey (provided demographic information), 103 completed the survey and provided information…
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…
Implications of monogenic bicuspid aortic valve (BAV) forms among sporadic BAV patients
Siu SC, Silversides CK. Bicuspid aortic valve disease. J Am Coll Cardiol. 2010;55:2789–800. PubMed Google Scholar Gehlen J,…