A survey on multimodal data-driven smart healthcare systems: approaches and applications

Q Cai, H Wang, Z Li, X Liu - IEEE Access, 2019 - ieeexplore.ieee.org
Multimodal data-driven approach has emerged as an important driving force for smart
healthcare systems with applications ranging from disease analysis to triage, diagnosis and …

Genetically determined serum urate levels and cardiovascular and other diseases in UK Biobank cohort: A phenome-wide mendelian randomization study

X Li, X Meng, Y He, A Spiliopoulou, M Timofeeva… - PLoS …, 2019 - journals.plos.org
Background The role of urate in cardiovascular diseases (CVDs) has been extensively
investigated in observational studies; however, the extent of any causal effect remains …

Phenome-wide Mendelian-randomization study of genetically determined vitamin D on multiple health outcomes using the UK Biobank study

X Meng, X Li, MN Timofeeva, Y He… - International journal …, 2019 - academic.oup.com
Background Vitamin D deficiency is highly prevalent across the globe. Existing studies
suggest that a low vitamin D level is associated with more than 130 outcomes. Exploring the …

Methods for the analysis and interpretation for rare variants associated with complex traits

JD Weissenkampen, Y Jiang, S Eckert… - Current protocols in …, 2019 - Wiley Online Library
With the advent of Next Generation Sequencing (NGS) technologies, whole genome and
whole exome DNA sequencing has become affordable for routine genetic studies. Coupled …

Reverse GWAS: Using genetics to identify and model phenotypic subtypes

A Dahl, N Cai, A Ko, M Laakso, P Pajukanta… - PLoS …, 2019 - journals.plos.org
Recent and classical work has revealed biologically and medically significant subtypes in
complex diseases and traits. However, relevant subtypes are often unknown, unmeasured …

Cox regression increases power to detect genotype-phenotype associations in genomic studies using the electronic health record

JJ Hughey, SD Rhoades, DY Fu, L Bastarache… - BMC genomics, 2019 - Springer
Background The growth of DNA biobanks linked to data from electronic health records
(EHRs) has enabled the discovery of numerous associations between genomic variants and …

Bayesian meta‐analysis across genome‐wide association studies of diverse phenotypes

H Trochet, M Pirinen, G Band, L Jostins… - Genetic …, 2019 - Wiley Online Library
Genome‐wide association studies (GWAS) are a powerful tool for understanding the genetic
basis of diseases and traits, but most studies have been conducted in isolation, with a focus …

Extrahepatic autoimmune diseases in patients with autoimmune hepatitis and their relatives: A Danish nationwide cohort study

L Grønbæk, H Vilstrup, L Pedersen… - Liver …, 2019 - Wiley Online Library
Abstract Background & Aims It is widely accepted that patients with autoimmune hepatitis
have an increased prevalence of extrahepatic autoimmune diseases. It is believed that the …

The Future of and Beyond GWAS

T Tsunoda - Genome-Wide Association Studies, 2019 - Springer
Although GWAS technologies themselves have become mature, there are still many issues
to be solved. One such issue is the missing heritability problem. It is still unknown whether it …

Efficient estimation and applications of cross-validated genetic predictions

J Mefford, D Park, Z Zheng, A Ko, M Ala-Korpela… - bioRxiv, 2019 - biorxiv.org
Large-scale cohorts with combined genetic and phenotypic data, coupled with
methodological advances, have produced increasingly accurate genetic predictors of …