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…
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…
Decomposition of phenotypic heterogeneity in autism reveals underlying genetic programs
Ethics We received approval to access and analyze deidentified genetic and phenotypic data from the two cohorts from…
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…
A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia
Tan W, Lin A, Keppler-Noreuil K. Cranioectodermal Dysplasia. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace…