Baylor, DNAnexus Collaborate
News Jun 23, 2015
HgV is an open source fully configurable platform that offers tools for analyzing high-throughput whole genome sequence data in precision medicine research and clinical applications. It improves on existing methods and protocols for processing and analyzing data from whole genomes, the company said.
According to DNAnexus, HgV is designed to handle the sort of throughput that flows from Illumina X Ten instruments, and provides a secure and scalable environment for analyzing data from single and multi-sample projects. Its features include functional whole-genome annotation of both protein-coding and non-coding regions using data from multiple sources; aggregation of annotation, phenotype, and variant information in a NoSQL-based extensible and scalable data warehouse; the ability to integrate heterogenous library protocols and sequencing platforms including long-read sequencing and SNP arrays; and tools for prioritizing variants associated with Mendelian diseases, pedigree sample sets, and de novo mutation analysis in trios, cancer, and case/control studies.
HgV will be available in the DNAnexus cloud infrastructure and will offer pre-configured workflows for various use cases, the company said. As part of efforts to make the system available on the cloud, the partners will establish a high-quality personal genome for testing, benchmarking, and validating protocols, methods, and tools. The partners will also focus on trackability, versioning, and reproducibility to enable seamless transition into a CAP/CLIA environment.
Genome-wide association studies (GWAS) look at large populations to find genes that contribute to common, multi-gene traits like height or obesity. These comprehensive studies frequently turn up large numbers of tiny genetic variations that occur more often in people who are tall, obese, etc. So which genes should scientists investigate further?READ MORE
In recent years, numerous studies have shown that people who don't get enough sleep are at greater risk of stroke and heart attack. A study found that people who sleep fewer than 7 hours per night have lower blood levels of three physiological regulators, or microRNAs, which influence gene expression and play a key role in maintaining vascular health.