Methods of integrating data to uncover genotype–phenotype interactions
MD Ritchie, ER Holzinger, R Li… - Nature Reviews …, 2015 - nature.com
Recent technological advances have expanded the breadth of available omic data, from
whole-genome sequencing data, to extensive transcriptomic, methylomic and metabolomic …
whole-genome sequencing data, to extensive transcriptomic, methylomic and metabolomic …
Mapping complex disease traits with global gene expression
Variation in gene expression is an important mechanism underlying susceptibility to
complex disease. The simultaneous genome-wide assay of gene expression and genetic …
complex disease. The simultaneous genome-wide assay of gene expression and genetic …
GSVA: gene set variation analysis for microarray and RNA-seq data
Background Gene set enrichment (GSE) analysis is a popular framework for condensing
information from gene expression profiles into a pathway or signature summary. The …
information from gene expression profiles into a pathway or signature summary. The …
Understanding mechanisms underlying human gene expression variation with RNA sequencing
Understanding the genetic mechanisms underlying natural variation in gene expression is a
central goal of both medical and evolutionary genetics, and studies of expression …
central goal of both medical and evolutionary genetics, and studies of expression …
Human metabolic individuality in biomedical and pharmaceutical research
Genome-wide association studies (GWAS) have identified many risk loci for complex
diseases, but effect sizes are typically small and information on the underlying biological …
diseases, but effect sizes are typically small and information on the underlying biological …
Inherited GATA3 variants are associated with Ph-like childhood acute lymphoblastic leukemia and risk of relapse
Recent genomic profiling of childhood acute lymphoblastic leukemia (ALL) identified a high-
risk subtype with an expression signature resembling that of Philadelphia chromosome …
risk subtype with an expression signature resembling that of Philadelphia chromosome …
Revealing the architecture of gene regulation: the promise of eQTL studies
Expression quantitative trait loci (eQTL) mapping studies have become a widely used tool
for identifying genetic variants that affect gene regulation. In these studies, expression levels …
for identifying genetic variants that affect gene regulation. In these studies, expression levels …
[图书][B] Textbook of personalized medicine
KK Jain - 2015 - Springer
Molecular diagnostics, the use of diagnostic testing to understand the molecular
mechanisms of an individual patient's disease, will be pivotal in the delivery of safe and …
mechanisms of an individual patient's disease, will be pivotal in the delivery of safe and …
Testicular cancer survivorship: research strategies and recommendations
LB Travis, C Beard, JM Allan, AA Dahl… - Journal of the …, 2010 - academic.oup.com
Testicular cancer represents the most curable solid tumor, with a 10-year survival rate of
more than 95%. Given the young average age at diagnosis, it is estimated that effective …
more than 95%. Given the young average age at diagnosis, it is estimated that effective …
Cancer pharmacogenomics: strategies and challenges
Genetic variation influences the response of an individual to drug treatments. Understanding
this variation has the potential to make therapy safer and more effective by determining …
this variation has the potential to make therapy safer and more effective by determining …