Lecture by Joseph N. Paulson, PhD
Harvard Postdoctoral Fellow
Advisor: John Quackenbush
Host: Sean Davis

"Methods to account for sequencing artifacts in sparse high-throughput data"

August 29, 3:00-4:00pm
NIH Main Campus
Bldg 50, First floor conference room(s)

Please feel free to forward to interested parties, special interest groups, etc.


ABSTRACT

We present two methods accounting for sequencing artifacts in the analysis of 
high-throughput sequencing data.

First, we introduce a methodology to assess differential abundance in sparse 
microbial marker-gene survey data. Our approach, implemented in the 
metagenomeSeq Bioconductor package, relies on a novel normalization technique 
and a statistical model that accounts for undersampling—a common feature of 
large-scale marker-gene studies. Using simulated data and several published 
microbiota data sets, we show that metagenomeSeq outperforms the tools 
currently used in this field. We motivate this on a large infant 
healthy/diarrheal cohort where we find novel disease associated pathogens 
fromStreptococcus mitis/pneumoniae groups.

Second, although ultrahigh-throughput RNA-sequencing has become the dominant 
technology for genome-wide transcriptional profiling, the vast majority of 
RNA-seq studies typically profile only tens of samples, and most analytical 
pipelines are optimized for these smaller studies. However, projects are 
generating ever-larger data sets comprising RNA-seq data from hundreds or 
thousands of samples, often collected at multiple locations and from diverse 
tissues. We examine the effects of different preprocessing methods on 
downstream analyses. We find analysis of large RNA-seq data sets requires 
careful quality control and that one account for sparsity due to the 
heterogeneity intrinsic in multi-group studies. We motivate our results using 
the GTEx cohort and look at the impact of age on gene expression in oncogenes 
vs tumor suppressors vs neither.


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