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.…
Telomere attrition becomes an instrument for clonal selection in aging hematopoiesis and leukemogenesis
Ethical regulations This study was conducted under approved UKB application no. 56844. Clinical samples were obtained with informed…
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…
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…
Whole-exome sequencing analysis identifies risk genes for schizophrenia
To discover schizophrenia risk genes, we generated exome-sequencing data on a new sample of 4650 cases and 5719…
Branching out: Tomato genes point to new medicines
The Takeaway CSHL’s Lippman and McCandlish labs have discovered how interactions between cryptic genetic mutations can increase or…
Incorporating genetic data improves target trial emulations and informs the use of polygenic scores in randomized controlled trial design
Ethics statement This study complies with all relevant ethical regulations and was conducted in accordance with the research…
Decomposition of phenotypic heterogeneity in autism reveals underlying genetic programs
Identifying the structures of autism phenotypes To best reflect the complexity of presentations across autistic individuals, we identified…