Framework for Supporting Genomic Operations

Next Generation Sequencing (NGS) is a family of technologies for reading the DNA or RNA, capable of producing whole genome sequences at an impressive speed, and causing a revolution of both biological research and medical practice. In this exciting scenario, while a huge number of specialized bio-informatics programs extract information from sequences, there is an increasing need for a new generation of systems and frameworks capable of integrating such information, providing holistic answers to the needs of biologists and clinicians. To respond to this need, we developed GMQL, a new query language for genomic data management that operates on heterogeneous genomic datasets. In this paper, we focus on three domain-specific operations of GMQL used for the efficient processing of operations on genomic regions, and we describe their efficient implementation; the paper develops a theory of binning strategies as a generic approach to parallel execution of genomic operations, and then describes how binning is embedded into two efficient implementations of the operations using Flink and Spark, two emerging frameworks for data management on the cloud

Systematizing Genome Privacy Research: A Privacy-Enhancing Technologies Perspective

Rapid advances in human genomics are enabling researchers to gain a better understanding of the role of the genome in our health and well-being, stimulating hope for more effective and cost efficient healthcare. However, this also prompts a number of security and privacy concerns stemming from the distinctive characteristics of genomic data. To address them, a new research community has emerged and produced a large number of publications and initiatives. In this paper, we rely on a structured methodology to contextualize and provide a critical analysis of the current knowledge on privacy-enhancing technologies used for testing, storing, and sharing genomic data, using a representative sample of the work published in the past decade. We identify and discuss limitations, technical challenges, and issues faced by the community, focusing in particular on those that are inherently tied to the nature of the problem and are harder for the community alone to address. Finally, we report on the importance and difficulty of the identified challenges based on an online survey of genome data privacy expertsComment: To appear in the Proceedings on Privacy Enhancing Technologies (PoPETs), Vol. 2019, Issue

GenomeVIP: A cloud platform for genomic variant discovery and interpretation

Identifying genomic variants is a fundamental first step toward the understanding of the role of inherited and acquired variation in disease. The accelerating growth in the corpus of sequencing data that underpins such analysis is making the data-download bottleneck more evident, placing substantial burdens on the research community to keep pace. As a result, the search for alternative approaches to the traditional “download and analyze” paradigm on local computing resources has led to a rapidly growing demand for cloud-computing solutions for genomics analysis. Here, we introduce the Genome Variant Investigation Platform (GenomeVIP), an open-source framework for performing genomics variant discovery and annotation using cloud- or local high-performance computing infrastructure. GenomeVIP orchestrates the analysis of whole-genome and exome sequence data using a set of robust and popular task-specific tools, including VarScan, GATK, Pindel, BreakDancer, Strelka, and Genome STRiP, through a web interface. GenomeVIP has been used for genomic analysis in large-data projects such as the TCGA PanCanAtlas and in other projects, such as the ICGC Pilots, CPTAC, ICGC-TCGA DREAM Challenges, and the 1000 Genomes SV Project. Here, we demonstrate GenomeVIP's ability to provide high-confidence annotated somatic, germline, and de novo variants of potential biological significance using publicly available data sets.</jats:p

Supporting Regularized Logistic Regression Privately and Efficiently

As one of the most popular statistical and machine learning models, logistic regression with regularization has found wide adoption in biomedicine, social sciences, information technology, and so on. These domains often involve data of human subjects that are contingent upon strict privacy regulations. Increasing concerns over data privacy make it more and more difficult to coordinate and conduct large-scale collaborative studies, which typically rely on cross-institution data sharing and joint analysis. Our work here focuses on safeguarding regularized logistic regression, a widely-used machine learning model in various disciplines while at the same time has not been investigated from a data security and privacy perspective. We consider a common use scenario of multi-institution collaborative studies, such as in the form of research consortia or networks as widely seen in genetics, epidemiology, social sciences, etc. To make our privacy-enhancing solution practical, we demonstrate a non-conventional and computationally efficient method leveraging distributing computing and strong cryptography to provide comprehensive protection over individual-level and summary data. Extensive empirical evaluation on several studies validated the privacy guarantees, efficiency and scalability of our proposal. We also discuss the practical implications of our solution for large-scale studies and applications from various disciplines, including genetic and biomedical studies, smart grid, network analysis, etc

The Genomic HyperBrowser: inferential genomics at the sequence level

The immense increase in the generation of genomic scale data poses an unmet analytical challenge, due to a lack of established methodology with the required flexibility and power. We propose a first principled approach to statistical analysis of sequence-level genomic information. We provide a growing collection of generic biological investigations that query pairwise relations between tracks, represented as mathematical objects, along the genome. The Genomic HyperBrowser implements the approach and is available at http://hyperbrowser.uio.no

User oriented access to secure biomedical resources through the grid

The life science domain is typified by heterogeneous data sets that are evolving at an exponential rate. Numerous post-genomic databases and areas of post-genomic life science research have been established and are being actively explored. Whilst many of these databases are public and freely accessible, it is often the case that researchers have data that is not so freely available and access to this data needs to be strictly controlled when distributed collaborative research is undertaken. Grid technologies provide one mechanism by which access to and integration of federated data sets is possible. Combining such data access and integration technologies with fine grained security infrastructures facilitates the establishment of virtual organisations (VO). However experience has shown that the general research (non-Grid) community are not comfortable with the Grid and its associated security models based upon public key infrastructures (PKIs). The Internet2 Shibboleth technology helps to overcome this through users only having to log in to their home site to gain access to resources across a VO – or in Shibboleth terminology a federation. In this paper we outline how we have applied the combination of Grid technologies, advanced security infrastructures and the Internet2 Shibboleth technology in several biomedical projects to provide a user-oriented model for secure access to and usage of Grid resources. We believe that this model may well become the de facto mechanism for undertaking e-Research on the Grid across numerous domains including the life sciences