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.…
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+)
Capone VP, Morello W, Taroni F, Montini G. Genetics of congenital anomalies of the kidney and urinary tract:…
Cross-biobank generalizability and accuracy of electronic health record-based predictors compared to polygenic scores
Ethics declarations Patients and control participants in FinnGen provided informed consent for biobank research, based on the Finnish…
Deep genome sequencing reveals extensive genetic heterogeneity in early human placentas
Deep genome sequencing reveals spatial genetic heterogeneity with multiple unique clones in both early and late stage placentas…
Neurobehavioral profile of individuals with pathogenic variants in CHD3
Global, regional, and national incidence, prevalence, and years lived with disability for 354 diseases and injuries for 195…
Genetic insights into causal effects of lipids and lipid-modifying targets on calcific aortic valve stenosis: a Mendelian randomized study
Genetic variant selection After clumping, we identified 374 SNPs for TC, 415 for HDL-C, 313 for LDL-C and…
Whole-genome sequencing of 490,640 UK Biobank participants
We integrated deep phenotyping data27 available for most UKB participants and performed genetic association analysis across selected disease…
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…
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…
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…
Implications of monogenic bicuspid aortic valve (BAV) forms among sporadic BAV patients
Siu SC, Silversides CK. Bicuspid aortic valve disease. J Am Coll Cardiol. 2010;55:2789–800. PubMed Google Scholar Gehlen J,…