publication . Other literature type . Article . Preprint . 2019

A Framework for Transcriptome-Wide Association Studies in Breast Cancer in Diverse Study Populations

Bhattacharya, Arjun; García-Closas, Montserrat; Olshan, Andrew F.; Perou, Charles M.; Troester, Melissa A.; Love, Michael I.;
Open Access
  • Published: 14 Sep 2019
  • Publisher: bioRxiv
Abstract
<jats:title>Abstract</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>The relationship between germline genetic variation and breast cancer survival is largely unknown, especially in understudied minority populations who often have poorer survival. Genome-wide association studies (GWAS) have interrogated breast cancer survival but often are underpowered due to subtype heterogeneity and many clinical covariates and detect loci in non-coding regions that are difficult to interpret. Transcriptome-wide association studies (TWAS) show increased power in detecting functionally-relevant loci by leveraging expression quantitative trait loci (eQTLs) from ...
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doi: 10.1101/769570 , 10.1186/s13059-020-1942-6
pmc: PMC7033948 ...
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Subjects
free text keywords: Transcriptome-wide analysis (TWAS), Breast cancer, Expression quantitative trait loci (eQTL), Survival, Polygenic traits, Biology (General), QH301-705.5, Genetics, QH426-470, Research, Population, education.field_of_study, education, Biology, Polygene, Genome-wide association study, Genetic variation, Genetic association, Expression quantitative trait loci, Human genetics, Computational biology, medicine.disease, medicine, Genotype, Locus (genetics)
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Funded by
NIH| UNC-CH Center for Environmental Health and Suscesptibility
Project
UNC-CH Center for Environmental Health and Suscesptibility
  • Funder: National Institutes of Health (NIH)
  • Project Code: 5P30ES010126-11
  • Funding stream: NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES
, NIH| CORE--PROTEOMICS
Project
CORE--PROTEOMICS
  • Funder: National Institutes of Health (NIH)
  • Project Code: 5P30CA016086-33
  • Funding stream: NATIONAL CANCER INSTITUTE
, NIH| pathQTL: Integrative Multi-Omics Causal Inference of Molecular Mechanisms Leading to Neuropsychiatric Illness
Project
pathQTL: Integrative Multi-Omics Causal Inference of Molecular Mechanisms Leading to Neuropsychiatric Illness
  • Funder: National Institutes of Health (NIH)
  • Project Code: 1R01MH118349-01
  • Funding stream: NATIONAL INSTITUTE OF MENTAL HEALTH
, NIH| Project 1: Innovative Biomarker-Integrated Clinical Trial Design and Analysis
Project
Project 1: Innovative Biomarker-Integrated Clinical Trial Design and Analysis
  • Funder: National Institutes of Health (NIH)
  • Project Code: 5P01CA142538-07
  • Funding stream: NATIONAL CANCER INSTITUTE
, NIH| A Modular Framework for Accurate, Efficient, and Reproducible Analysis of RNA-Seq Data
Project
A Modular Framework for Accurate, Efficient, and Reproducible Analysis of RNA-Seq Data
  • Funder: National Institutes of Health (NIH)
  • Project Code: 1R01HG009937-01A1
  • Funding stream: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
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