Analysis of individual patient pathway coordination in a cross-species single-cell kidney atlas
GBD Chronic Kidney Disease Collaboration Global, regional, and national burden of chronic kidney disease, 1990–2017: a systematic analysis…
Genetic insights into the origin, admixture, and migration of the early Austronesian peoples
Shutler R, Marck JC. On the dispersal of the Austronesian horticulturalists. Archaeology Phys Anthropol Ocean. 1975;10:81–113. Google Scholar …
Uncovering the multivariate genetic architecture of frailty with genomic structural equation modeling
Fogg, C. et al. The dynamics of frailty development and progression in older adults in primary care in…
When ganglioside pathways go awry: congenital disorders and experimental insights
Thudichum JLW. A treatise on the chemical constitution of the brain: Bailliere, Tindall, and Cox, London; 1884. Chiricozzi…
Natural variation in SBRR1 shows high potential for sheath blight resistance breeding in rice
GWAS identifies SBRR1 tightly associated with ShB resistance To investigate resistance to R. solani in rice, we evaluated…
Methods and applications of in vivo CRISPR screening
Auton, A. et al. A global reference for human genetic variation. Nature 526, 68–74 (2015). Google Scholar GarcÃa-GarcÃa,…
NGLY1 deficiency – clinical features and therapeutic strategy
Suzuki T. Catabolism of N-glycoproteins in mammalian cells: molecular mechanisms and genetic disorders related to the processes. Mol…
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…