User profiles for H. K. Im
 | Hae Kyung ImAssistant Professor, The University of Chicago Verified email at uchicago.edu Cited by 30559 |
[HTML][HTML] Opportunities and challenges for transcriptome-wide association studies
Transcriptome-wide association studies (TWAS) integrate genome-wide association studies
(GWAS) and gene expression datasets to identify gene–trait associations. In this Perspective…
(GWAS) and gene expression datasets to identify gene–trait associations. In this Perspective…
Molecular quantitative trait loci
Understanding functional effects of genetic variants is one of the key challenges in human
genetics, as much of disease-associated variation is located in non-coding regions with …
genetics, as much of disease-associated variation is located in non-coding regions with …
[HTML][HTML] The genotype-tissue expression (GTEx) project
Genome-wide association studies have identified thousands of loci for common diseases,
but, for the majority of these, the mechanisms underlying disease susceptibility remain …
but, for the majority of these, the mechanisms underlying disease susceptibility remain …
The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans
Understanding the functional consequences of genetic variation, and how it affects complex
human disease and quantitative traits, remains a critical challenge for biomedicine. We …
human disease and quantitative traits, remains a critical challenge for biomedicine. We …
A gene-based association method for mapping traits using reference transcriptome data
Genome-wide association studies (GWAS) have identified thousands of variants robustly
associated with complex traits. However, the biological mechanisms underlying these …
associated with complex traits. However, the biological mechanisms underlying these …
Annotation-free quantification of RNA splicing using LeafCutter
The excision of introns from pre-mRNA is an essential step in mRNA processing. We
developed LeafCutter to study sample and population variation in intron splicing. LeafCutter …
developed LeafCutter to study sample and population variation in intron splicing. LeafCutter …
Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk
The timing of puberty is a highly polygenic childhood trait that is epidemiologically associated
with various adult diseases. Using 1000 Genomes Project–imputed genotype data in up to …
with various adult diseases. Using 1000 Genomes Project–imputed genotype data in up to …
Accounting for animal movement in estimation of resource selection functions: sampling and data analysis
Patterns of resource selection by animal populations emerge as a result of the behavior of
many individuals. Statistical models that describe these population‐level patterns of habitat …
many individuals. Statistical models that describe these population‐level patterns of habitat …
The impact of sex on gene expression across human tissues
INTRODUCTION Many complex human phenotypes, including diseases, exhibit sex-differentiated
characteristics. These sex differences have been variously attributed to hormones, …
characteristics. These sex differences have been variously attributed to hormones, …
Effect of predicted protein-truncating genetic variants on the human transcriptome
Accurate prediction of the functional effect of genetic variation is critical for clinical genome
interpretation. We systematically characterized the transcriptome effects of protein-truncating …
interpretation. We systematically characterized the transcriptome effects of protein-truncating …