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Elucidating Pleiotropy of Genetic Variability on Human Complex Traits using Phenome-wide Analysis

Description:

Understanding the complex genome-phenome associations behind human complex traits will be a primary focus for the practice of precision medicine in the future. Identifying the genetic variants that contribute to the inter- and intra- phenotypic variations of individuals, elucidating pleiotropic architecture of common complex traits, and demonstrating how personal biomedical...

Keyword:

Electronic Health Records, Genome-wide association studies, Bioinformatics, Biomedical Informatics, Precision medicine, and Phenome-wide association studies

Subject:

Bioinformatics, Genetics, and Medicine

Creator:

Joo, Yoonjung Yoonie

Owner:

Scholarly Digital Publishing

Language:

en

Date Uploaded:

04/28/2020

Date Created:

2019-01-01

Resource Type:

Dissertation

Alternate Identifier:

etdadmin_upload_719309 and http://dissertations.umi.com/northwestern:15009
Development of Informatics Methods for Analysis of Complex Gene Regulation and Transcriptome Diversity Data in Cancer

Description:

Mammalian transcriptional regulation is well-known to be complex and highly context dependent. Different genetic and epigenetic features, including single nucleotide polymorphisms (SNPs) that function as cis- or trans-expression quantitative trait loci (eQTLs), transcription factor (TF) interaction profile with cis-regulatory elements (CREs), methylation of CpG dinucleotide sequences, and histone modification that...

Keyword:

Bioinformatics, Transcriptomics, Gene regulation, Deep Learning, Machine Learning, and Drug discovery

Subject:

Bioinformatics, Genetics, and Oncology

Creator:

Ji, Yanrong

Owner:

Scholarly Digital Publishing

Language:

en

Date Uploaded:

06/28/2021

Date Created:

2021-01-01

Resource Type:

Dissertation

Alternate Identifier:

etdadmin_upload_818497 and http://dissertations.umi.com/northwestern:15562

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Elucidating Pleiotropy of Genetic Variability on Human Complex Traits using Phenome-wide Analysis

Development of Informatics Methods for Analysis of Complex Gene Regulation and Transcriptome Diversity Data in Cancer

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