Drug repurposing: progress, challenges and recommendations
Given the high attrition rates, substantial costs and slow pace of new drug discovery and
development, repurposing of'old'drugs to treat both common and rare diseases is …
development, repurposing of'old'drugs to treat both common and rare diseases is …
Emerging role of precision medicine in cardiovascular disease
JA Leopold, J Loscalzo - Circulation research, 2018 - Am Heart Assoc
Precision medicine is an integrative approach to cardiovascular disease prevention and
treatment that considers an individual's genetics, lifestyle, and exposures as determinants of …
treatment that considers an individual's genetics, lifestyle, and exposures as determinants of …
GA4GH: International policies and standards for data sharing across genomic research and healthcare
Summary The Global Alliance for Genomics and Health (GA4GH) aims to accelerate
biomedical advances by enabling the responsible sharing of clinical and genomic data …
biomedical advances by enabling the responsible sharing of clinical and genomic data …
The GA4GH Phenopacket schema defines a computable representation of clinical data
TG is a shareholder of Westlake Omics Inc. TI is a cofounder of Data4Cure, is on the
Scientific Advisory Board and has an equity interest. TI is on the Scientific Advisory Board of …
Scientific Advisory Board and has an equity interest. TI is on the Scientific Advisory Board of …
Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record
Objective To compare three groupings of Electronic Health Record (EHR) billing codes for
their ability to represent clinically meaningful phenotypes and to replicate known genetic …
their ability to represent clinically meaningful phenotypes and to replicate known genetic …
The secondary use of electronic health records for data mining: Data characteristics and challenges
The primary objective of implementing Electronic Health Records (EHRs) is to improve the
management of patients' health-related information. However, these records have also been …
management of patients' health-related information. However, these records have also been …
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation
By informing timely targeted treatments, rapid whole-genome sequencing can improve the
outcomes of seriously ill children with genetic diseases, particularly infants in neonatal and …
outcomes of seriously ill children with genetic diseases, particularly infants in neonatal and …
PheKB: a catalog and workflow for creating electronic phenotype algorithms for transportability
JC Kirby, P Speltz, LV Rasmussen… - Journal of the …, 2016 - academic.oup.com
Objective Health care generated data have become an important source for clinical and
genomic research. Often, investigators create and iteratively refine phenotype algorithms to …
genomic research. Often, investigators create and iteratively refine phenotype algorithms to …
Genotype first: Clinical genomics research through a reverse phenotyping approach
CM Wilczewski, J Obasohan, JE Paschall… - The American Journal of …, 2023 - cell.com
Although genomic research has predominantly relied on phenotypic ascertainment of
individuals affected with heritable disease, the falling costs of sequencing allow …
individuals affected with heritable disease, the falling costs of sequencing allow …
Learning from longitudinal data in electronic health record and genetic data to improve cardiovascular event prediction
Current approaches to predicting a cardiovascular disease (CVD) event rely on
conventional risk factors and cross-sectional data. In this study, we applied machine …
conventional risk factors and cross-sectional data. In this study, we applied machine …