DNA Sequencing Analysis Kits Added to HIPAA Compliant Maverix Analytic Platform
Maverix Biomics Inc. has announced the availability of Analysis Kits for analyzing variants in whole genome, exome, and targeted resequencing data produced by high throughput next generation sequencing systems. These new DNA sequencing Analysis Kits, along with initial scientific results from researchers who have used the Maverix Analytic Platform for variant analysis, will be presented today at the 64th Annual Meeting of the American Society for Human Genetics in San Diego, California.
The new Analysis Kits enable customers to identify and annotate genetic variants in their sample data as compared to reference genomes for a wide variety of species, and visualize genotypes of these samples in the UCSC Genome Browser and through other filtering and interpretation tools. Researchers will now have the ability to easily identify mutations or genetic markers that are part of the gene pathways related to a specific disease or condition, or can be used as unique signatures for diagnostic and testing applications.
“We have run hundreds of samples through the Maverix Analytic Platform for DNA sequencing variant analysis,” said John Battles, Senior Manager of Bioinformatics and Study Management at Beckman Coulter Genomics. “I am very pleased with the data files, visualizations, and reports that we have received from Maverix.”
The new DNA sequencing Analysis Kits continue the Maverix tradition of being based on popular peer-reviewed open source tools, such as FastQC for sequencing quality checking, BWA for read mapping, and SnpEff for variant effect prediction. These tools have been assembled into complete end-to-end Analysis Kits that have been tested and validated with public reference data sets to ensure the ability to produce scientifically valid results. Maverix continues to offer researchers a choice of alternative tools, including GATK version 2.3 or FreeBayes for variant detection. Investigators can compare and choose the analysis tools that best meet their needs based on several factors, such as speed, cost, and accuracy.
Because the Maverix Analytic Platform is highly scalable, customers can manage and analyze extremely large data sets of up to thousands of samples, with typical time to completion of data analysis of 72 hours or less.
A unique “sample sheet” input feature allows customers to easily classify hundreds or thousands of samples with unique labels and identifiers, including adding phenotypic or non-genomic information to each sample for use in their analyses. Examples of non-genomic information that can be added include response to therapy, disease state, or demographic information, among many other possibilities.
In addition to viewing variant data in an integrated private, secure UCSC Genome Browser, researchers can also use an interactive tabular data visualization tool to sort and filter variants based on numerous parameters, including variant types, sample phenotypes, location within regions of the genome or in a specific gene, and prevalence in public databases such as 1000 Genomes, among other characteristics. The non-genomic data that was entered on the “sample sheet” can also be correlated with variants that are found in the genome.
Results data files, such as VCF files or BAM files, can be easily downloaded from the Maverix Analytic Platform as desired. Users also have the ability to generate PDF summary reports, which can be customized as necessary.
The new DNA sequencing analysis kits also offer access to the other capabilities of the platform, including secure and compliant management of human patient identifiable information and data in accordance with aspects of the Security Final Rule as established by the Department of Health and Human Services under the Health Insurance Portability and Accountability Act of 1996. An independent HIPAA Security Assessment of controls put in place by Maverix (as a potential business associate of entities required to comply under the omnibus final rules) has been successfully completed.
“The completion of the HIPAA Security Compliance Assessment demonstrates Maverix Biomics’ commitment to create and maintain the controls needed to ensure the quality and security of services provided to their customers,” said Brad Lyons, IT Audit Manager of 360 Advanced, P.A., a full-service audit and consulting firm that specializes in integrated compliance solutions, including HIPAA security assessments.
Researchers using the DNA sequencing Analysis Kits on the Maverix Analytic Platform can also use complementary Maverix Analysis Kits, including those for mRNA-seq, small RNA-seq and Exosome RNA-seq. Other platform features, such as sharing and collaboration, or access to public or community data sets to put customers’ data in context, are also available.
“We are pleased to now offer life sciences researchers the ability to perform variant analysis for their NGS data in addition to RNA-seq gene expression analysis on the Maverix Analytic Platform,” said Dave Mandelkern, president, CEO, and co-founder of Maverix Biomics. “By offering multiple types of analyses in a single secure, highly scalable environment with significant value-added functionality beyond that offered by the basic open source algorithms, we enable researchers to quickly and easily go from exploration of raw data to meaningful insight and discovery for large, challenging biological problems.”