Hae Kyung Im
A5051721434- Genetic Associations and Epidemiology
- Bioinformatics and Genomic Networks
- Genetic Mapping and Diversity in Plants and Animals
- RNA modifications and cancer
- RNA Research and Splicing
- Ovarian cancer diagnosis and treatment
- Gene expression and cancer classification
- Cancer-related molecular mechanisms research
- Molecular Biology Techniques and Applications
- MicroRNA in disease regulation
- Cancer Genomics and Diagnostics
- Nutrition, Genetics, and Disease
- Lymphoma Diagnosis and Treatment
- Genomics and Chromatin Dynamics
- Circular RNAs in diseases
- Iron Metabolism and Disorders
- Genomics and Rare Diseases
- Cancer, Lipids, and Metabolism
- Genetic and phenotypic traits in livestock
- Functional Brain Connectivity Studies
- Advanced Proteomics Techniques and Applications
- Vitamin D Research Studies
- Colorectal Cancer Treatments and Studies
- Genetic factors in colorectal cancer
- Asthma and respiratory diseases
University of Chicago
2016-2025
Argonne National Laboratory
2021-2025
Centre for Human Genetics
2015-2023
Genomics (United Kingdom)
2023
University of Oxford
2023
Oxford Centre for Diabetes, Endocrinology and Metabolism
2023
Ludwig-Maximilians-Universität München
2021
University of Maryland, Baltimore
2020
University of Maryland Marlene and Stewart Greenebaum Comprehensive Cancer Center
2020
Thermo Fisher Scientific (Sweden)
2020
Genome-wide association studies have identified thousands of loci for common diseases, but, the majority these, mechanisms underlying disease susceptibility remain unknown. Most associated variants are not correlated with protein-coding changes, suggesting that polymorphisms in regulatory regions probably contribute to many phenotypes. Here we describe Genotype-Tissue Expression (GTEx) project, which will establish a resource database and tissue bank scientific community study relationship...
Expression, genetic variation, and tissues Human genomes show extensive variation across individuals, but we have only just started documenting the effects of this on regulation gene expression. Furthermore, a few been examined per variant. In order to examine how expression varies among within Genotype-Tissue Expression (GTEx) Consortium collected 1641 postmortem samples covering 54 body sites from 175 individuals. They identified quantitative traits that affect determined which these...
The Genotype-Tissue Expression (GTEx) project dissects how genetic variation affects gene expression and splicing.
Many complex human phenotypes exhibit sex-differentiated characteristics. However, the molecular mechanisms underlying these differences remain largely unknown. We generated a catalog of sex in gene expression and genetic regulation across 44 tissue sources surveyed by Genotype-Tissue Expression project (GTEx, v8 release). demonstrate that influences levels cellular composition samples body. A total 37% all genes sex-biased at least one tissue. identify cis quantitative trait loci (eQTLs)...
Cell type composition, estimated from bulk tissue, maps the cellular specificity of genetic variants.
Telomere length within an individual varies in a correlated manner across most tissues.
Patterns of resource selection by animal populations emerge as a result the behavior many individuals. Statistical models that describe these population‐level patterns habitat use can miss important interactions between individual animals and characteristics their local environment; however, identifying is difficult. One approach to this problem incorporate movement into models. To do this, we propose model for step functions (SSF) composed resource‐independent kernel function (RSF). We show...
Integration of genome-wide association studies (GWAS) and expression quantitative trait loci (eQTL) is needed to improve our understanding the biological mechanisms underlying GWAS hits, ability identify therapeutic targets. Gene-level methods such as PrediXcan can prioritize candidate However, limited eQTL sample sizes absence relevant developmental disease context restrict detect associations. Here we propose an efficient statistical method (MultiXcan) that leverages substantial sharing...
Expression, genetic variation, and tissues Human genomes show extensive variation across individuals, but we have only just started documenting the effects of this on regulation gene expression. Furthermore, a few been examined per variant. In order to examine how expression varies among within Genotype-Tissue Expression (GTEx) Consortium collected 1641 postmortem samples covering 54 body sites from 175 individuals. They identified quantitative traits that affect determined which these...
The resources generated by the GTEx consortium offer unprecedented opportunities to advance our understanding of biology human diseases. Here, we present an in-depth examination phenotypic consequences transcriptome regulation and a blueprint for functional interpretation genome-wide association study-discovered loci. Across broad set complex traits diseases, demonstrate widespread dose-dependent effects RNA expression splicing. We develop data-driven framework benchmark methods that...
Abstract The Genotype-Tissue Expression (GTEx) project was established to characterize genetic effects on the transcriptome across human tissues, and link these regulatory mechanisms trait disease associations. Here, we present analyses of v8 data, based 17,382 RNA-sequencing samples from 54 tissues 948 post-mortem donors. We comprehensively associations for gene expression splicing in cis trans , showing that are found almost all genes, describe underlying molecular their contribution...
Understanding the genetic architecture of gene expression traits is key to elucidating underlying mechanisms complex traits. Here, for first time, we perform a systematic survey heritability and distribution effect sizes across all representative tissues in human body. We find that local h2 can be relatively well characterized with 59% expressed genes showing significant (FDR < 0.1) DGN whole blood cohort. However, current sample (n ≤ 922) do not allow us compute distal h2. Bayesian Sparse...
For many complex traits, gene regulation is likely to play a crucial mechanistic role. How the genetic architectures of traits vary between populations and subsequent effects on prediction are not well understood, in part due historical paucity GWAS non-European ancestry. We used data from MESA (Multi-Ethnic Study Atherosclerosis) cohort characterize architecture expression within diverse populations. Genotype monocyte were available individuals with African American (AFA, n = 233), Hispanic...
Population differences observed for complex traits may be attributed to the combined effect of socioeconomic, environmental, genetic and epigenetic factors. To better understand population in traits, genome-wide gene expression among ethnic populations have been studied. Here we set out evaluate small non-coding RNAs through an evaluation microRNA (miRNA) baseline HapMap lymphoblastoid cell lines (LCLs) derived from 53 CEU (Utah residents with northern western European ancestry) 54 YRI...
Outliers in the human transcriptome reveal functional effects of rare genetic variants.