A graphical, interactive and GPU-enabled workflow to process long-read sequencing data

Abstract Background Long-read sequencing has great promise in enabling portable, rapid molecular-assisted cancer diagnoses. A key challenge in democratizing long-read sequencing technology in the biomedical and clinical community is the lack of graphical bioinformatics software tools which can effic...

Full description

Bibliographic Details
Main Authors: Shishir Reddy, Ling-Hong Hung, Olga Sala-Torra, Jerald P. Radich, Cecilia CS Yeung, Ka Yee Yeung
Format: Article
Language:English
Published: BMC 2021-08-01
Series:BMC Genomics
Subjects:
Online Access:https://doi.org/10.1186/s12864-021-07927-1
_version_ 1818910823778615296
author Shishir Reddy
Ling-Hong Hung
Olga Sala-Torra
Jerald P. Radich
Cecilia CS Yeung
Ka Yee Yeung
author_facet Shishir Reddy
Ling-Hong Hung
Olga Sala-Torra
Jerald P. Radich
Cecilia CS Yeung
Ka Yee Yeung
author_sort Shishir Reddy
collection DOAJ
description Abstract Background Long-read sequencing has great promise in enabling portable, rapid molecular-assisted cancer diagnoses. A key challenge in democratizing long-read sequencing technology in the biomedical and clinical community is the lack of graphical bioinformatics software tools which can efficiently process the raw nanopore reads, support graphical output and interactive visualizations for interpretations of results. Another obstacle is that high performance software tools for long-read sequencing data analyses often leverage graphics processing units (GPU), which is challenging and time-consuming to configure, especially on the cloud. Results We present a graphical cloud-enabled workflow for fast, interactive analysis of nanopore sequencing data using GPUs. Users customize parameters, monitor execution and visualize results through an accessible graphical interface. The workflow and its components are completely containerized to ensure reproducibility and facilitate installation of the GPU-enabled software. We also provide an Amazon Machine Image (AMI) with all software and drivers pre-installed for GPU computing on the cloud. Most importantly, we demonstrate the potential of applying our software tools to reduce the turnaround time of cancer diagnostics by generating blood cancer (NB4, K562, ME1, 238 MV4;11) cell line Nanopore data using the Flongle adapter. We observe a 29x speedup and a 93x reduction in costs for the rate-limiting basecalling step in the analysis of blood cancer cell line data. Conclusions Our interactive and efficient software tools will make analyses of Nanopore data using GPU and cloud computing accessible to biomedical and clinical scientists, thus facilitating the adoption of cost effective, fast, portable and real-time long-read sequencing.
first_indexed 2024-12-19T22:48:56Z
format Article
id doaj.art-ff2c02551adb4007b0a074feaace793b
institution Directory Open Access Journal
issn 1471-2164
language English
last_indexed 2024-12-19T22:48:56Z
publishDate 2021-08-01
publisher BMC
record_format Article
series BMC Genomics
spelling doaj.art-ff2c02551adb4007b0a074feaace793b2022-12-21T20:02:54ZengBMCBMC Genomics1471-21642021-08-012211810.1186/s12864-021-07927-1A graphical, interactive and GPU-enabled workflow to process long-read sequencing dataShishir Reddy0Ling-Hong Hung1Olga Sala-Torra2Jerald P. Radich3Cecilia CS Yeung4Ka Yee Yeung5University of CaliforniaSchool of Engineering and Technology, University of WashingtonClinical Research Division, Fred Hutchinson Cancer Research CenterClinical Research Division, Fred Hutchinson Cancer Research CenterClinical Research Division, Fred Hutchinson Cancer Research CenterSchool of Engineering and Technology, University of WashingtonAbstract Background Long-read sequencing has great promise in enabling portable, rapid molecular-assisted cancer diagnoses. A key challenge in democratizing long-read sequencing technology in the biomedical and clinical community is the lack of graphical bioinformatics software tools which can efficiently process the raw nanopore reads, support graphical output and interactive visualizations for interpretations of results. Another obstacle is that high performance software tools for long-read sequencing data analyses often leverage graphics processing units (GPU), which is challenging and time-consuming to configure, especially on the cloud. Results We present a graphical cloud-enabled workflow for fast, interactive analysis of nanopore sequencing data using GPUs. Users customize parameters, monitor execution and visualize results through an accessible graphical interface. The workflow and its components are completely containerized to ensure reproducibility and facilitate installation of the GPU-enabled software. We also provide an Amazon Machine Image (AMI) with all software and drivers pre-installed for GPU computing on the cloud. Most importantly, we demonstrate the potential of applying our software tools to reduce the turnaround time of cancer diagnostics by generating blood cancer (NB4, K562, ME1, 238 MV4;11) cell line Nanopore data using the Flongle adapter. We observe a 29x speedup and a 93x reduction in costs for the rate-limiting basecalling step in the analysis of blood cancer cell line data. Conclusions Our interactive and efficient software tools will make analyses of Nanopore data using GPU and cloud computing accessible to biomedical and clinical scientists, thus facilitating the adoption of cost effective, fast, portable and real-time long-read sequencing.https://doi.org/10.1186/s12864-021-07927-1Cancer diagnosticsWorkflowsCloud computingNanoporeGPUFAIR
spellingShingle Shishir Reddy
Ling-Hong Hung
Olga Sala-Torra
Jerald P. Radich
Cecilia CS Yeung
Ka Yee Yeung
A graphical, interactive and GPU-enabled workflow to process long-read sequencing data
BMC Genomics
Cancer diagnostics
Workflows
Cloud computing
Nanopore
GPU
FAIR
title A graphical, interactive and GPU-enabled workflow to process long-read sequencing data
title_full A graphical, interactive and GPU-enabled workflow to process long-read sequencing data
title_fullStr A graphical, interactive and GPU-enabled workflow to process long-read sequencing data
title_full_unstemmed A graphical, interactive and GPU-enabled workflow to process long-read sequencing data
title_short A graphical, interactive and GPU-enabled workflow to process long-read sequencing data
title_sort graphical interactive and gpu enabled workflow to process long read sequencing data
topic Cancer diagnostics
Workflows
Cloud computing
Nanopore
GPU
FAIR
url https://doi.org/10.1186/s12864-021-07927-1
work_keys_str_mv AT shishirreddy agraphicalinteractiveandgpuenabledworkflowtoprocesslongreadsequencingdata
AT linghonghung agraphicalinteractiveandgpuenabledworkflowtoprocesslongreadsequencingdata
AT olgasalatorra agraphicalinteractiveandgpuenabledworkflowtoprocesslongreadsequencingdata
AT jeraldpradich agraphicalinteractiveandgpuenabledworkflowtoprocesslongreadsequencingdata
AT ceciliacsyeung agraphicalinteractiveandgpuenabledworkflowtoprocesslongreadsequencingdata
AT kayeeyeung agraphicalinteractiveandgpuenabledworkflowtoprocesslongreadsequencingdata
AT shishirreddy graphicalinteractiveandgpuenabledworkflowtoprocesslongreadsequencingdata
AT linghonghung graphicalinteractiveandgpuenabledworkflowtoprocesslongreadsequencingdata
AT olgasalatorra graphicalinteractiveandgpuenabledworkflowtoprocesslongreadsequencingdata
AT jeraldpradich graphicalinteractiveandgpuenabledworkflowtoprocesslongreadsequencingdata
AT ceciliacsyeung graphicalinteractiveandgpuenabledworkflowtoprocesslongreadsequencingdata
AT kayeeyeung graphicalinteractiveandgpuenabledworkflowtoprocesslongreadsequencingdata