The contribution of de novo coding mutations to meningomyelocele
Iskandar, B. J. & Finnell, R. H. Spina bifida. N. Engl. J. Med. 387, 444–450 (2022). Article PubMed …
Meta-analysis reveals differences in somatic alterations by genetic ancestry across common cancers
Genetic ancestry is a quantitative measure of inherited genetic variation and correlates with human migration patterns1. It contributes…
Population-scale gene-based analysis of whole-genome sequencing provides insights into metabolic health
To identify genes associated with either adult BMI or T2D risk, we performed association testing using WGS data…
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease
School of Computation, Information and Technology, Technical University of Munich, Garching, Germany Vicente A. Yépez, Rebeka Luknárová, Felix Brechtmann, Leon Kraß, Shubhankar…
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…
A genome-wide association analysis reveals new pathogenic pathways in gout
Kuo, C. F. et al. Global epidemiology of gout: prevalence, incidence and risk factors. Nat. Rev. Rheumatol. 11,…
Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program
Enrollment rates Between 28 September 2023 and 10 June 2024 (~8.5 months), a total of 2,125 newborns were enrolled.…
IL6 genetic perturbation mimicking IL-6 inhibition is associated with lower cardiometabolic risk
GBD Causes of Death Collaborators. Global burden of 288 causes of death and life expectancy decomposition in 204…
Whole-exome sequencing analysis identifies risk genes for schizophrenia
Lally, J. & MacCabe, J. H. Antipsychotic medication in schizophrenia: a review. Br. Med. Bull. 114, 169–179 (2015).…
Decomposition of phenotypic heterogeneity in autism reveals underlying genetic programs
Ethics We received approval to access and analyze deidentified genetic and phenotypic data from the two cohorts from…