Integrating multi-omics data with EHR for precision medicine using advanced artificial intelligence
With the recent advancement of novel biomedical technologies such as high-throughput
sequencing and wearable devices, multi-modal biomedical data ranging from multi-omics …
sequencing and wearable devices, multi-modal biomedical data ranging from multi-omics …
Genomewide association studies in pharmacogenomics
The increasing availability of genotype data linked with information about drug‐response
phenotypes has enabled genomewide association studies (GWAS) that uncover genetic …
phenotypes has enabled genomewide association studies (GWAS) that uncover genetic …
Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease
More than 800 million people suffer from kidney disease, yet the mechanism of kidney
dysfunction is poorly understood. In the present study, we define the genetic association with …
dysfunction is poorly understood. In the present study, we define the genetic association with …
[HTML][HTML] Germline Mutations in CIDEB and Protection against Liver Disease
Background Exome sequencing in hundreds of thousands of persons may enable the
identification of rare protein-coding genetic variants associated with protection from human …
identification of rare protein-coding genetic variants associated with protection from human …
Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure
Heart failure is a leading cause of cardiovascular morbidity and mortality. However, the
contribution of common genetic variation to heart failure risk has not been fully elucidated …
contribution of common genetic variation to heart failure risk has not been fully elucidated …
A deep catalogue of protein-coding variation in 983,578 individuals
Rare coding variants that substantially affect function provide insights into the biology of a
gene,–. However, ascertaining the frequency of such variants requires large sample sizes …
gene,–. However, ascertaining the frequency of such variants requires large sample sizes …
Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes
Body fat distribution is a major, heritable risk factor for cardiometabolic disease, independent
of overall adiposity. Using exome-sequencing in 618,375 individuals (including 160,058 non …
of overall adiposity. Using exome-sequencing in 618,375 individuals (including 160,058 non …
Whole genome sequence analysis of blood lipid levels in> 66,000 individuals
Blood lipids are heritable modifiable causal factors for coronary artery disease. Despite well-
described monogenic and polygenic bases of dyslipidemia, limitations remain in discovery …
described monogenic and polygenic bases of dyslipidemia, limitations remain in discovery …
Disrupting upstream translation in mRNAs is associated with human disease
Ribosome-profiling has uncovered pervasive translation in non-canonical open reading
frames, however the biological significance of this phenomenon remains unclear. Using …
frames, however the biological significance of this phenomenon remains unclear. Using …
Association of pathogenic variants in hereditary cancer genes with multiple diseases
Importance Knowledge about the spectrum of diseases associated with hereditary cancer
syndromes may improve disease diagnosis and management for patients and help to …
syndromes may improve disease diagnosis and management for patients and help to …