June 20, 2022
1000 Genomes Project: Part I
The well-established 1000 Genomes Project has produced a broad sequence database of human genomic variation. However, up until recently, the reference genome used for the majority of the subsequent genomic analyses has been incomplete.
The updated “telomere-to-telomere” sequence of the human genome helped fill in the gaps in our understanding of the genome and highlighted that a significant portion of disease-causing variation is more complex than single nucleotide changes. Complex structural variants and methylation changes are just some of the emerging genomic features implicated in disease.
How Can Oxford Nanopore Contribute?
What makes Oxford Nanopore sequencing different from its competitors like Illumina and PacBio is its capacity for long-read sequencing. Accurate long reads yield higher quality data about large-scale genomic variation, like structural variation and gene duplications, because the raw data requires less pre-processing for assembly. Oxford Nanopore sequencing also has the capacity to provide information on modifications to nucleotides, like methylation.
Thus, long-read sequencing is helping uncover variation in the genome previously missed by short-read technology. As such, the research team tackling this new iteration of the 1000 Genomes project is using nanopore sequencing exclusively to re-sequence 500 of the original genomes from the project to better characterize their variation.
Outsourcing Bioinformatics Analysis
Innovation in the genomic sequencing space is exploding. From Oxford Nanopore’s completely unique long-read sequencing platform to Illumina’s new ventures into the long-read space, to Ultima Genomics emerging from obscurity with technology to provide the $100 genome, genomic data is improving in quality and increasing in quantity.
Two big challenges emerge from the growth in this space: data storage and data analysis. Our experts at Bridge Informatics can help you build custom cloud-based infrastructure to safely and securely store your data, and build bioinformatic pipelines to reproducibly analyze complex datasets and gain actionable biological insights. Book a free discovery call with us now to see how we can help you with your project needs.
Jane Cook, Journalist & Content Writer, Bridge Informatics
Jane is a Content Writer at Bridge Informatics, a professional services firm that helps biotech customers implement advanced techniques in the management and analysis of genomic data. Bridge Informatics focuses on data mining, machine learning, and various bioinformatic techniques to discover biomarkers and companion diagnostics. If you’re interested in reaching out, please email [email protected] or [email protected].