The All of Us Research Program's Data and Research Center (DRC) was established to
help acquire, curate, and provide access to one of the world's largest and most diverse …

Dyslipidaemias encompass about two dozen relatively rare monogenic disorders and
syndromes for which the genetic basis has largely been defined. In addition, the complex …

Most scientific research is conducted by small teams of investigators who together formulate
hypotheses, collect data, conduct analyses, and report novel findings. These teams operate …

• Genome sequencing is a comprehensive genetic test that is being integrated into health
care systems internationally.• Test indications include suspected genetic disorders in …

Purpose To determine disease-associated single-gene variants in conotruncal defects,
particularly tetralogy of Fallot (TOF). Methods We analyzed for rare loss-of-function and …

Differentially private synthetic data generation offers a recent solution to release analytically
useful data while preserving the privacy of individuals in the data. In order to utilize these …

Background Despite known clinical risk factors, predicting anthracycline cardiotoxicity
remains challenging. Objectives This study sought to develop a clinical and genetic risk …

Induced pluripotent stem cells (iPSC) derived from healthy individuals are important controls
for disease-modeling studies. Here we apply precision health to create a high-quality …

Recent genome-wide studies of rare genetic variants have begun to implicate novel
mechanisms for tetralogy of Fallot (TOF), a severe congenital heart defect (CHD). To provide …

Background Assess process, uptake, validity and resource needs for return of actionable
research findings to biobank participants. Methods Participants were prospectively enrolled …