Author: Hae Kyung Im

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Preprints

A tissue-aware machine learning framework enhances the mechanistic understanding and genetic diagnosis of Mendelian and rare diseases

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Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics

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LeafCutter: Annotation-free quantification of RNA splicing

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The GTEx Consortium atlas of genetic regulatory effects across human tissues

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PrediXcan: Trait Mapping Using Human Transcriptome Regulation

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Exploiting the GTEx resources to decipher the mechanisms at GWAS loci

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Diverse transcriptomic signatures across human tissues identify functional rare genetic variation

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Survey of the Heritability and Sparsity of Gene Expression Traits Across Human Tissues

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PhenomeXcan: Mapping the genome to the phenome through the transcriptome

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Integrative cross tissue analysis of gene expression identifies novel type 2 diabetes genes

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Mechanisms of tissue-specific genetic regulation revealed by latent factors across eQTLs

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Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility

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Genetic architecture of gene expression traits across diverse populations

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Gene expression imputation across multiple brain regions reveals schizophrenia risk throughout development.

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Shared and Distinct Genetic Risk Factors for Childhood Onset and Adult Onset Asthma: Genome- and Transcriptome-wide Studies

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Integrating Predicted Transcriptome From Multiple Tissues Improves Association Detection

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Transcriptomic Imputation of Bipolar Disorder and Bipolar subtypes reveals 29 novel associated genes

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Impact of admixture and ancestry on eQTL analysis and GWAS colocalization in GTEx

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Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

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Imputed gene associations identify replicable trans-acting genes enriched in transcription pathways and complex traits

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Fine-mapping and QTL tissue-sharing information improve causal gene identification and transcriptome prediction performance

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Analysis of Genetically Regulated Gene Expression identifies a trauma type specific PTSD gene, SNRNP35

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Multiethnic Meta-analysis Identifies New Loci for Pulmonary Function

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Polygenic transcriptome risk scores improve portability of polygenic risk scores across ancestries

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Scalable unified framework of total and allele-specific counts for cis-QTL, fine-mapping, and prediction

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Probabilistic Colocalization of Genetic Variants from Complex and Molecular Traits: Promise and Limitations

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CORE GREML: Estimating covariance between random effects in linear mixed models for genomic analyses of complex traits

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