Scientists find hundreds of inherited DNA patterns that defy classic Mendelian genetics
For more than a century, heredity has been framed through the tidy logic of Mendel’s pea plants: traits…
A multi-dimensional framework for establishing and managing a genomic newborn screening program
The above-described methodology resulted in a multi-dimensional framework for a gNBS program consisting of 18 screening criteria (Table 1)…
Population-scale gene-based analysis of whole-genome sequencing provides insights into metabolic health
Ethics Our research complies with all relevant ethical regulations. All studies included in this research were approved by…
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.…
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…
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).…
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…