To annotate the genome, the team generated
transcriptome sequence data — which can be used to measure gene expression based on RNA levels — in 12 different tissues types.
Our lab has a strong track record in integration of large - scale genome and
transcriptome sequencing data sets to characterize the genetic architecture of variants that affect the transcriptome.
She has pioneered the intergration of large - scale genome and
transcriptome sequencing data to understand how genetic variation affects gene expression, providing insight to cellular mechanisms underlying genetic risk for disease.
In this study we have integrated genome and
transcriptome sequencing data to understand the landscape of functional variation in human populations.
Not exact matches
Dr. Mardis has research interests in the application of DNA
sequencing to characterize cancer genomes and
transcriptomes, and using these
data to support therapeutic decision - making.
In a paper published in Nature in September 2013, we describe results of the largest study to date integrating RNA and genome
sequencing data from multiple human populations, and provide a comprehensive map of how genetic variation affects the
transcriptome.
Our work combines computational analysis of high - throughput
sequencing data, population genetics, and experimental work.We focus in particular on studying genetic effects on the
transcriptome traits, which has further applications in other traits at the cellular and individual level.
Here we analyze the GTEx21, 22,23,24,25 RNA -
sequencing data to investigate the impact of death and the post-mortem cold ischemic interval on the
transcriptomes of human tissues.
While genome and
transcriptome data from RNA -
sequencing are the main
data types that we analyze, the approaches are applicable to epigenomic and other cellular
data sets.
Research on vaccine biomarkers, including in - depth comparative analysis of
data from different platforms, large - scale RNA
sequencing, harmonisation of standard operating procedures (SOPs) for sample, microarray and
data analysis, as well as
transcriptome mapping (more than 1400 samples analysed).
Additional lines are being developed to analyze next - generation
sequencing transcriptome data, and to construct and work with phylogenetic trees.
We also generated a large set of
sequence data including the whole
transcriptomes of ~ 100 species as well as a couple of genomes.