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…
Genetic association and machine learning improve the prediction of type 1 diabetes risk
Ethics statement The use of human genetic data in this study was approved by the University of California,…
A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions
FTLD-FET consortium We established an international consortium to identify and bring together a sufficiently large case population to…
Florida law models what genetic disease testing could be
In Florida, a new genetic disease screening program allows parents of newborns to receive free whole genome sequencing…
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
Ethics Our research complies with all relevant ethical regulations. All studies included in this research were approved by…
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…