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…
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…
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:…
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
Yadgir, S. et al. Global burden of disease study 2017 nonrheumatic valve disease collaborators. Global, regional, and National…
Direct letters to relatives at risk of hereditary cancer—a randomised trial on healthcare-assisted versus family-mediated risk disclosure
Study context The management of genetic testing results and consequent risk information is not explicitly addressed in Swedish…