Document text
Principal Investigator: Leng Han
Organization: INDIANA UNIVERSITY INDIANAPOLIS
Fiscal Year: 2024
Award: $396,250
Funding agency: National Human Genome Research Institute
Abstract
important
noncoding
functional
data Our group
constructed a series of data portals for molQTLs, including data portals for expression QTLs (eQTLs),
methylation QTLs (meQTLs), and splicing QTLs (sQTLs) based on a large number of cancer samples from
TCGA. We demonstrated that these QTLs are associated with patient survival, and/or overlap with GWAS
linkage disequilibrium regions. These related data resources have been broadly accessed since their releases,
nucleotide polymorphisms (SNPs), the most common type of human genetic variants, play
roles in shaping complex human traits and causing diseases. Most risk-related SNPs are located in
regions and it remains a challenge to understand the effects and molecular mechanisms of
SNPs . ) analysis is a statistical method to link genotyping
and molecular phenotype data to interpret the effects of genetic variants in complex traits.
Single
,
Molecular quantitative trait loci (MolQTL
and highlighted
discovery
the opportunities t o understand the functional significance of genetic variants and to utilize the
of molQTLs in precision medicine.
The goal of this proposal is to enhance, expand, and promote our existing data resources that will
bridge the genetic variants and different molecular features through molQTL analysis, providing a unique data
resource for understanding the functional effects of genetic variants and facilitating access to and
understanding of complex datasets for non-expert users. In Aim 1, we will enhance our existing data resources
with additional analytical modules. We will identify molQTLs with highly efficient and accurate approaches (Aim
1.1). We will fine-map causal variants and causal effects through mediation analysis (Aim 1.2). We will
evaluate anti-cancer drug response from molQTLs (Aim 1.3). We will determine the associations between
genetic variants and immune features through molQTL analysis (Aim 1.4). In Aim 2, We will expand and
promote our existing data resources. We will identifyRNA editing QTLs (edQTLs, Aim 2.1), 3'-UTR alternative
polyadenylationQTLs (apaQTLs, Aim 2.2), andprotein QTLs (pQTLs, Aim 2.3). We will develop a unified data
portal to integrate all the molQTL types described in this proposal (Aim 2.4). We will promote MolQTL and
active interaction with the user community through providing written documents, video tutorial and hands-on
workshops (Aim 2.5). We expect that our molQTL data portal will serve as a comprehensive, unique, and user-
friendly data portal to identify and interpret the functional consequences of genetic variants.
Terms: <Anti-Cancer Agents><Antineoplastic Agents><Antineoplastic Drugs><Antineoplastics><Arthritis><CRISPR approach><CRISPR based approach><CRISPR method><CRISPR methodology><CRISPR technique><CRISPR technology><CRISPR tools><CRISPR-CAS-9><CRISPR-based method><CRISPR-based technique><CRISPR-based technology><CRISPR-based tool><CRISPR/CAS approach><CRISPR/Cas method><CRISPR/Cas technology><CRISPR/Cas9><CRISPR/Cas9 technology><Cancer Drug><Cancers><Cardiac Diseases><Cardiac Disorders><Cas nuclease technology><Categories><Clinical><Clinical Trials><Clustered Regularly Interspaced Short Palindromic Repeats approach><Clustered Regularly Interspaced Short Palindromic Repeats method><Clustered Regularly Interspaced Short Palindromic Repeats methodology><Clustered Regularly Interspaced Short Palindromic Repeats technique><Clustered Regularly Interspaced Short Palindromic Repeats technology><Communities><Complex><Data><Data Set><Deposit><Deposition><Disease><Disorder><Drugs><Educational workshop><Epigenetic><Epigenetic Change><Epigenetic Mechanism><Epigenetic Process><Event><Functional RNA><GWA study><GWAS><Gene variant><Genetic Polymorphism><Genomics><Genotype><Goals><Heart Diseases><Human><Human Genetics><Immune><Immunes><Individual><Investigation><Investigators><Link><Linkage Disequilibrium><Malignant Neoplasms><Malignant Tumor><Maps><Mediation><Medication><Methylation><Modern Man><Molecular><Multiomic Data><Negotiating><Negotiation><Neoplastic Disease Chemotherapeutic Agents><Non-Coding><Non-Coding RNA><Non-translated RNA><Noncoding RNA><Nontranslated RNA><Nucleotides><Patients><Pharmaceutical Preparations><Play><Polyadenylation><Post-Transcriptional Control><Post-Transcriptional Regulation><Proteins><Proteomics><QTL><Quantitative Trait Loci><RNA Editing><RNA Polyadenylation><RNA Splicing><RNA, Messenger, Editing><Research><Research Personnel><Research Resources><Researchers><Resources><Risk><Role><Sampling><Series><Shapes><Single Base Polymorphism><Single Nucleotide Polymorphism><Splicing><Statistical Methods><TCGA><Technology><The Cancer Genome Atlas><Translating><Tumor-Specific Treatment Agents><UTRs><Untranslated RNA><Untranslated Regions><Update><Variant><Variation><Workshop><Writing><allele variant><allelic variant><anti-cancer drug><arthritic><biobank><biorepository><cancer type><causal allele><causal gene><causal mutation><causal variant><causative mutation><causative variant><complex data><data portal><data resource><data sharing portal><database of Genotypes and Phenotypes><dbGaP><disease risk><disorder risk><drug/agent><epigenetically><genetic architecture><genetic variant><genome editing><genome wide association><genome wide association scan><genome wide association studies><genome wide association study><genomewide association scan><genomewide association studies><genomewide association study><genomic editing><genomic variant><heart disorder><high dimensional data><high throughput technology><internet resource><malignancy><metabolism measurement><metabolomics><metabonomics><microbiome><molecular phenotype><multidimensional data><multidimensional datasets><multiple omic data><neoplasm/cancer><new diagnostics><new therapeutic approach><new therapeutic intervention><new therapeutic strategies><new therapy approaches><new treatment approach><new treatment strategy><next generation diagnostics><noncoding><novel><novel diagnostics><novel therapeutic approach><novel therapeutic intervention><novel therapeutic strategies><novel therapy approach><on-line compendium><on-line resource><online compendium><online resource><phenotypic data><polymorphism><post-transcriptional gene regulation><posttranscriptional control><posttranscriptional regulation><precision medicine><precision-based medicine><prognostic><response><single nucleotide variant><social role><statistic methods><therapeutic target><trait><translational medicine><translational opportunities><translational potential><user-friendly><web resource><web-based resource><whole genome association analysis><whole genome association studies><whole genome association study>