From big data to precision medicine
For over a decade the term “Big data” has been used to describe the rapid increase in
volume, variety and velocity of information available, not just in medical research but in …
volume, variety and velocity of information available, not just in medical research but in …
Host genetics and infectious disease: new tools, insights and translational opportunities
Understanding how human genetics influence infectious disease susceptibility offers the
opportunity for new insights into pathogenesis, potential drug targets, risk stratification …
opportunity for new insights into pathogenesis, potential drug targets, risk stratification …
Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing
Risk for late-onset Alzheimer's disease (LOAD), the most prevalent dementia, is partially
driven by genetics. To identify LOAD risk loci, we performed a large genome-wide …
driven by genetics. To identify LOAD risk loci, we performed a large genome-wide …
Using phecodes for research with the electronic health record: from PheWAS to PheRS
L Bastarache - Annual review of biomedical data science, 2021 - annualreviews.org
Electronic health records (EHRs) are a rich source of data for researchers, but extracting
meaningful information out of this highly complex data source is challenging. Phecodes …
meaningful information out of this highly complex data source is challenging. Phecodes …
Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2C9 and HLA‐B Genotypes and Phenytoin Dosing: 2020 Update
Phenytoin is an antiepileptic drug with a narrow therapeutic index and large interpatient
pharmacokinetic variability, partly due to genetic variation in CYP2C9. Furthermore, the …
pharmacokinetic variability, partly due to genetic variation in CYP2C9. Furthermore, the …
HLA imputation and its application to genetic and molecular fine-mapping of the MHC region in autoimmune diseases
Variations of human leukocyte antigen (HLA) genes in the major histocompatibility complex
region (MHC) significantly affect the risk of various diseases, especially autoimmune …
region (MHC) significantly affect the risk of various diseases, especially autoimmune …
Current research status of HLA in immune‐related diseases
B Liu, Y Shao, R Fu - Immunity, Inflammation and Disease, 2021 - Wiley Online Library
Human leukocyte antigen (HLA), also known as human major histocompatibility complex
(MHC), is encoded by the HLA gene complex, and is currently known to have the highest …
(MHC), is encoded by the HLA gene complex, and is currently known to have the highest …
Rheumatoid arthritis and risk of site-specific cancers: Mendelian randomization study in European and East Asian populations
Background The associations of rheumatoid arthritis (RA) with risk of site-specific cancers
beyond lymphohematopoietic cancer have been scarcely explored. We conducted a …
beyond lymphohematopoietic cancer have been scarcely explored. We conducted a …
Genetic and phenotypic landscape of the major histocompatibilty complex region in the Japanese population
To perform detailed fine-mapping of the major-histocompatibility-complex region, we
conducted next-generation sequencing (NGS)-based typing of the 33 human leukocyte …
conducted next-generation sequencing (NGS)-based typing of the 33 human leukocyte …
Cross-cancer evaluation of polygenic risk scores for 16 cancer types in two large cohorts
Even distinct cancer types share biological hallmarks. Here, we investigate polygenic risk
score (PRS)-specific pleiotropy across 16 cancers in European ancestry individuals from the …
score (PRS)-specific pleiotropy across 16 cancers in European ancestry individuals from the …