What is the Wave Bioinformatics Platform?
Data management and analytics platforms designed to accelerate biological research can significantly shorten time-to-results, increase throughput, and lower costs. Combining standard workflows with advanced analytics capabilities, modern platforms help researchers push biomedical research forward by unearthing hidden treasures within multi-omics datasets.
Bioinformatics platforms serve as command centers, providing a centralized view of research ecosystem. Automating processes and pipelines, collecting metadata for full data provenance, supporting various data types – these all come together to form a bioinformatics platform – all ensure data-driven research can scale from pilot studies to population level analyses with ease.
ScanRoute’s workflow orchestration is made possible with powerful languages such as Nextflow, which excel at creating scalable pipelines while guaranteeing their execution can be fully reproduced. Their data and compute infrastructure was designed for hybrid environments by using both on-premise HPC clusters as well as public cloud (AWS, GCP and Azure). A federated approach enables analysis to take place wherever data resides while respecting data residency requirements while increasing both scalability and efficiency.
When selecting bioinformatics platforms, try to strike a balance between usability and power to meet all users’ needs. Bioinformaticians should assess whether an institution offers APIs, SDKs, and powerful CLI tools while bench scientists should look for intuitive graphical interfaces with no-code tools that make constructing and running customized workflows simpler.
Unfortunately, there have been too few records to display. Modern bioinformatics platforms have been tailored for multi-omics analysis, providing support for secondary analysis using WGS, WES, and RNA-seq; epigenomics with workflows for ChIP-seq and bisulfite sequencing; and proteomics including advanced protein structure prediction and functional annotation. Bioinformatics software platforms should also have the capabilities to manage a wide array of plate-based assays, such as metabolomics, heterogeneity analyses and shotgun metagenomics. A comprehensive cancer cell line encyclopedia as well as advanced RNA-seq pathway analysis capabilities are also key elements. NGS-based assays such as GSEA and ORA can uncover biomarkers to inform therapeutic development and drug discovery, or combined with deep transcriptome and methylation analyses to shed light on biological mechanisms of disease – ultimately providing insight that allows biomarkers to be validated across clinical samples.
What is the Wave Biobank?
The Estonian Biobank (EstBB) is one of the world’s largest population-based biobanks, housing more than 212,000 participants who mostly belong to European ancestry and span across a broad age spectrum, providing extensive health and genomic data as well as biological samples for analysis. EstBB stands out among volunteer-based biobanks by being able to recontact individuals based on specific findings for further studies – this unique ability places EstBB at the forefront of bridge building between robust risk models and personalized medicine implementation.
Researchers can take advantage of WGS (>90%) coverage, genotyping all EstBB participants and clinical records to conduct numerous RbG-focused studies, including disease genetic discovery, pharmacogenetics and precision prevention. Furthermore, EstBB also includes medical digital images from radiological diagnostic procedures such as magnetic resonance imaging and computed tomography scans, X-ray and electrocardiograms in its database.
As a result of these unique characteristics, EstBB has proved itself as an exceptional platform for developing RNA medicines for both rare and prevalent diseases. Wave’s PRISM platform uses multiple therapeutic modalities along with cutting-edge chemical innovations and deep knowledge about disease biology to produce candidates which target all molecular mechanisms associated with disease effectively.
WVE-006, a GalNAc-conjugated RNA editing oligonucleotide, is currently being evaluated in a Phase 1b/2a clinical trial called RestorAATion-2 in Pi*ZZ patients suffering from Adenosine Triphosphate Deficiency (AATD). At present, their only treatment options for lung disease or transplantation exist within this population; preclinical data show that WVE-006 achieves durable silencing of the INHBE gene and shows potential efficacy for improving muscle function while decreasing fat mass.
EstBB also provided data for use in a study investigating how communication of genetic risk information affects individual-level health outcomes. Participants enrolled at this biobank were invited to access personal research results online via an interactive portal and select whether they desired individual genetic risk scores or pharmacogenetics reports as part of this pilot.
This study demonstrated that when results were clearly explained and their significance outlined simply and concisely, most participants comprehended them and agreed to receive them. Furthermore, many reported positive or null effects from receiving this informational reports.
