The All of Us Data and Research Center: Creating a Secure, Scalable, and Sustainable Ecosystem for Biomedical Research
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 …
help acquire, curate, and provide access to one of the world's largest and most diverse …
[HTML][HTML] The role of genetic testing in dyslipidaemia
Dyslipidaemias encompass about two dozen relatively rare monogenic disorders and
syndromes for which the genetic basis has largely been defined. In addition, the complex …
syndromes for which the genetic basis has largely been defined. In addition, the complex …
Scientific utopia III: Crowdsourcing science
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 …
hypotheses, collect data, conduct analyses, and report novel findings. These teams operate …
[HTML][HTML] Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot
MS Reuter, R Jobling, RR Chaturvedi, R Manshaei… - 2019 - Elsevier
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 …
particularly tetralogy of Fallot (TOF). Methods We analyzed for rare loss-of-function and …
Genome sequencing as a diagnostic test
• Genome sequencing is a comprehensive genetic test that is being integrated into health
care systems internationally.• Test indications include suspected genetic disorders in …
care systems internationally.• Test indications include suspected genetic disorders in …
Comparative study of differentially private synthetic data algorithms from the NIST PSCR differential privacy synthetic data challenge
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 …
useful data while preserving the privacy of individuals in the data. In order to utilize these …
Machine learning identifies clinical and genetic factors associated with anthracycline cardiotoxicity in pediatric cancer survivors
MA Chaix, N Parmar, C Kinnear, M Lafreniere-Roula… - Cardio Oncology, 2020 - jacc.org
Background Despite known clinical risk factors, predicting anthracycline cardiotoxicity
remains challenging. Objectives This study sought to develop a clinical and genetic risk …
remains challenging. Objectives This study sought to develop a clinical and genetic risk …
Precision health resource of control iPSC lines for versatile multilineage differentiation
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 …
for disease-modeling studies. Here we apply precision health to create a high-quality …
Genes and pathways implicated in tetralogy of Fallot revealed by ultra-rare variant burden analysis in 231 genome sequences
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 …
mechanisms for tetralogy of Fallot (TOF), a severe congenital heart defect (CHD). To provide …
Return of genetic and genomic research findings: experience of a pediatric biorepository
T Papaz, E Liston, L Zahavich, DJ Stavropoulos… - BMC medical …, 2019 - Springer
Background Assess process, uptake, validity and resource needs for return of actionable
research findings to biobank participants. Methods Participants were prospectively enrolled …
research findings to biobank participants. Methods Participants were prospectively enrolled …