Abstract

Advanced imaging and DNA sequencing technologies now enable the diverse biology community to routinely generate and analyze terabytes of high resolution biological data. The community is rapidly heading toward the petascale in single investigator laboratory settings. As evidence, the single NCBI SRA central DNA sequence repository contains over 45 petabytes of biological data. Given the geometric growth of this and other genomics repositories, an exabyte of mineable biological data is imminent. The challenges of effectively utilizing these datasets are enormous as they are not only large in the size but also stored in geographically distributed repositories in various repositories such as National Center for Biotechnology Information (NCBI), DNA Data Bank of Japan (DDBJ), European Bioinformatics Institute (EBI), and NASA’s GeneLab. In this work, we first systematically point out the data-management challenges of the genomics community. We then introduce Named Data Networking (NDN), a novel but well-researched Internet architecture, is capable of solving these challenges at the network layer. NDN performs all operations such as forwarding requests to data sources, content discovery, access, and retrieval using content names (that are similar to traditional filenames or filepaths) and eliminates the need for a location layer (the IP address) for data management. Utilizing NDN for genomics workflows simplifies data discovery, speeds up data retrieval using in-network caching of popular datasets, and allows the community to create infrastructure that supports operations such as creating federation of content repositories, retrieval from multiple sources, remote data subsetting, and others. Named based operations also streamlines deployment and integration of workflows with various cloud platforms. Our contributions in this work are as follows 1) we enumerate the cyberinfrastructure challenges of the genomics community that NDN can alleviate, and 2) we describe our efforts in applying NDN for a contemporary genomics workflow (GEMmaker) and quantify the improvements. The preliminary evaluation shows a sixfold speed up in data insertion into the workflow. 3) As a pilot, we have used an NDN naming scheme (agreed upon by the community and discussed in Section 4) to publish data from broadly used data repositories including the NCBI SRA. We have loaded the NDN testbed with these pre-processed genomes that can be accessed over NDN and used by anyone interested in those datasets. Finally, we discuss our continued effort in integrating NDN with cloud computing platforms, such as the Pacific Research Platform (PRP). The reader should note that the goal of this paper is to introduce NDN to the genomics community and discuss NDN’s properties that can benefit the genomics community. We do not present an extensive performance evaluation of NDN—we are working on extending and evaluating our pilot deployment and will present systematic results in a future work.

Highlights

  • Scientific communities are entering a new era of exploration and discovery in many fields driven by high-density data accumulation

  • The experiment has multiple parts: 1) naming data in a way that is understood by NDN as well as acceptable to the genomics community (Figure 2); 2) publishing data into the testbed and making them discoverable to the users using a distributed catalog and a UI (Figure 3); 3) Modify GEMmaker to interact with the data published in the testbed 4) Compare the performance of the new integration to the existing workflow

  • We enumerate the cyberinfrastruture challenges faced by the genomics community

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Summary

Introduction

Scientific communities are entering a new era of exploration and discovery in many fields driven by high-density data accumulation. Take for example high-throughput DNA Sequencing (HTDS). Several companies are offering fragmented genome re-sequencing under $100, performed in only a few days. This massive drop in cost and improvement in speed supports more advanced scientific discovery. Earlier scientists could only test their hypothesis on a small number of genomes or gene expression conditions within or between species. With more publicly available datasets (Sayers et al, 2020), scientists can test their hypothesis against a larger number of genomes, potentially enabling them to identify rare mutations, precisely classify diseases based on a specific patient, and more accurately treat the disease (Lowy-Gallego et al, 2019)

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