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Diffstat (limited to 'slides.tex')
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1 files changed, 80 insertions, 21 deletions
@@ -20,7 +20,7 @@ \author{Justin Bed\H{o}\\WEHI} \title{\includegraphics[width=.7\linewidth]{logo}\\functional, reproducible bioinformatics workflows} -\date{November 10, 2020} +\date{December 8th, 2020} \begin{document} @@ -40,7 +40,7 @@ \item More complex than a straight chain \end{enumerate} \begin{center} - $\Rightarrow$ tooling needed for reproducibility + $\Rightarrow$ tooling needed for reproducibility\footnote{generate bit-identical output from an analysis specification on any machine with sufficient resources} \end{center} \end{frame} @@ -169,8 +169,6 @@ \begin{minipage}{.55\textwidth} \begin{overprint} \onslide<1>\includegraphics[width=\linewidth]{pipeline} - \onslide<2>\includegraphics[width=.75\linewidth]{bwa-stage} - \onslide<3>\includegraphics[width=\linewidth]{bwa-drv} \end{overprint} \end{minipage} \end{frame} @@ -199,30 +197,91 @@ \end{frame} \begin{frame} - \frametitle{NextFlow example translation} - \begin{minipage}{.5\textwidth} - \begin{block}{BioNix} - \vspace{.25cm} - \includegraphics[height=.65\textheight]{nextflow-nix} - \end{block} - \end{minipage} - \begin{minipage}{.4\textwidth} - \begin{block}{NextFlow} - \vspace{.25cm} - \includegraphics[height=.65\textheight]{nextflow} - \end{block} - \end{minipage} + \frametitle{Stafford Fox Rare Cancer Project} + \begin{enumerate} + \item $\geq100$ WGS/WES samples totalling 20 TiB of primary data + \item Clinical \& research driven + \item Timely reporting to requesting clinicians + \item Flexibility required to respond to research questions + \item Cohort requires consistent processing + \item Reproducibility throughout time + \end{enumerate} \end{frame} \begin{frame} - \frametitle{Real-world usage at WEHI} + \frametitle{Stafford Fox Rare Cancer Project} \begin{enumerate} - \item Stafford Fox Rare Cancer Project - \item $\geq100$ WGS/WES samples totalling 20 TiB of primary data + \item Reproducible workflow via BioNix, with version control provided by git \item SNV calling, neoantigen prediction, structural variants, copy number, mutational signatures, and report generation with embedded revision hash - \item CI ensures reports are always up to date and consistent across the cohort + \item Handles WES, WGS, comprehensive cancer panel, PDX + \item Continuous integration ensures reports are always up to date and consistent across the cohort \item Processed at Pawsey (Slurm) and WEHI (PBS \& Slurm) + \item Almost completely automated handling of new data + \end{enumerate} +\end{frame} + +\begin{frame} + \frametitle{Example report} +\end{frame} + +\begin{frame} + \frametitle{Stafford Fox Rare Cancer Workflow} + \includegraphics[width=\linewidth]{sfrc01042} +\end{frame} + +\begin{frame} + \frametitle{Stafford Fox Rare Cancer Workflow} + \includegraphics[width=\linewidth]{sfrc01042-gridss} +\end{frame} + +\begin{frame} + \frametitle{Generating expressions for new data} + \includegraphics[width=.9\linewidth]{autogen} +\end{frame} + +\begin{frame} + \frametitle{Integrating RedCap information reproducibly} + \begin{minipage}{.3\textwidth} + \includegraphics[width=\linewidth]{redcap} + \end{minipage} + \begin{minipage}{.68\textwidth} + \begin{enumerate} + \item Difficult, live database without a release schedule + \item Solution: store the relevant annotations in the expressions + \item Git version control then also applies to the DB content + \item Sync script to update annotations \end{enumerate} + \end{minipage} +\end{frame} + +\begin{frame} + \frametitle{Benefits from using BioNix} + \begin{enumerate} + \item Guarantees a high degree of reproducibility and portability + \item Easy to modify workflow and add components + \item Small continuous integration implementation + \item Inbuilt consistency checking via hash verification + \end{enumerate} +\end{frame} + +\begin{frame} + \frametitle{Issues with BioNix} + \begin{enumerate} + \item Steep learning curve + \begin{enumerate} + \item Nix the language + \item BioNix/nixpkgs abstractions + \item Stafford Fox workflow particulars + \end{enumerate} + \item Low discoverability + \item Modest collection of bioinformatics software in nixpkgs + \item Nix evaluation isn't hermetic (fixed with flakes) + \end{enumerate} +\end{frame} + +\begin{frame} + \frametitle{Alternative configuration structure} + \includegraphics[width=\linewidth]{config} \end{frame} \begin{frame} |