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,…
Mechanistic insights into 16p13.3 microdeletions encompassing TBC1D24 and ATP6V0C through advanced sequencing approaches
Kumar D. Disorders of the genome architecture: a review. Genom Med. 2008;2:69–76. https://doi.org/10.1007/s11568-009-9028-2. Article Google Scholar Shaw CJ,…
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.…
The impact of genetic immune disorders on infections including COVID-19, inflammatory bowel disease and cancer
Poli, M. C. et al. Human inborn errors of immunity: 2024 update on the classification from the International…
Peace in Colombia requires healing the scars of conflict on the mind and brain
A.I. is supported by grants from the multi-partner consortium to expand dementia research in Latin America (ReDLat, supported…
Multi-cohort machine learning identifies predictors of cognitive impairment in Parkinson’s disease
Harvey, J. et al. Machine learning-based prediction of cognitive outcomes in de novo Parkinson’s disease. npj Parkinsons Dis.…
Weight-loss associated DNA methylation patterns: targetable biomarkers and pathway insights | BMC Research Notes
Processed datasets Public datasets were collected and analyzed independently. We utilized DNAm arrays from the Illumina EPIC platform,…
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…