Reference Migration

Reference Migration

The enormous momentum in human genomics results in continuous new insights and development of techniques for genomic discovery and application. The human reference genome plays a fundamental part in this process. The latest release, GRCh38 was released already some time ago. It covers larger parts of the human genome, has corrections and provides new opportunities for discovery.

Even though moving forward to the latest release of the human genome produces new findings and will connect high-value datasets to the next wave of publications, many institutes remain reluctant to do so. This is caused by the high costs related to computational and additional storage requirements. The speed, high accuracy, and reduced footprint of Genalice solutions provides an easy way to move large datasets to the new standard of the human genome.

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Publication

Pioneering an efficient migration of 13,000 whole genomes: Catching up with the latest human genome assembly.

Author: S. Graf et al. (University of Cambridge, United Kingdom)

The challenge: Migrating a dataset of 13,000 whole genomes focused on the identification of the genetic basis of rare diseases with emphasis on cardiovascular disorders to the latest human reference standard GRCh38.

The solution: Analysis of 13,000 whole genomes shows that GRCh38 delivers better coverage and significantly more variants without detriment to quality. Alignment and variant calling for GRCh38 was completed in 20 days using 10 compute nodes.