Fabric Genomics™, a global leader in clinical interpretation of genomic data, announced that it is offering select customers the option of using ‘Build 38,’ the most current reference genome assembly, for their clinical genetic testing efforts. Technically known as GRCh38, this reference build has many advantages over previous iterations.
Build 38 was released by the Human Genome Consortium to succeed Build 37, which had been the standard human reference genome since 2009. Build 38 is the most up-to-date representation of the human genome sequence. It repairs incorrect assemblies from Build 37, removes some incorrectly assigned pathogenic alleles, adds centromere sequences and improves the reference genome in critical gene-rich regions; it also increases the number of alternate loci, thus allowing for a more accurate representation of human variation. These improvements enable researchers to remove well-known errors that hinder automated clinical workflows, and gain access to areas of the genome that had been virtually unknown before.
Earlier this year, Fabric Genomics began providing the new reference genome in its platform to Genomics England, and is now offering other users early access to the Build 38 pipeline. Thus far, Fabric Genomics has processed more than 3000 patient genomes on Build 38 for Genomics England, the UK’s Department of Health and Social Care-funded company that was set up to deliver the 100,000 Genomes Project, an ambitious effort that is sequencing whole genomes from patients with rare diseases and common cancers.
“We’re very proud to be able to provide more users with early access to the most current reference genome,” said Martin G. Reese, PhD, Fabric Genomics’ President and CEO. “Having worked with Genomics England, which runs the most well-respected genome project in the world, we have fully tested and validated our pipeline and are now in a position to serve additional clinical laboratories. We look forward to seeing how it can enhance users’ critical research and clinical efforts.”
“GRCh38 has been available for several years now,” said Augusto Rendon, PhD, director of Bioinformatics at Genomics England. “We were keen to adopt it in the 100,000 Genomes Project as early as possible to ensure that as many participants as possible would benefit from its advantages. Fabric’s delivery of their system supporting Build 38 has enabled us to provide prompt genome analyses to the labs and hospitals that participate in the 100,000 Genomes Project.”
Laboratories and institutions interested in adopting Fabric Genomics’ Build 38 Early Access Program will have access to the proprietary Fabric Enterprise™ platform, and the ability to annotate, interpret and generate clinical reports on their Build 38 genomes. The platform utilizes cutting-edge bioinformatics tools such as VAAST™ and Phevor™.
“We’re pleased to see Fabric Genomics incorporating GRCh38 into their workflow,” said Valerie Schneider, PhD, a member of the Genome Reference Consortium (GRC). “We think their customers will see very quickly the richness of this latest reference genome. With its greater contiguity, improved coverage of complex genomic regions and increased representation of population diversity, Build 38 better supports annotation than the prior assembly version, and will open many new doors and new opportunities for more accurate and meaningful analysis.”
In addition to offering Build 38, Fabric Genomics is announcing the availability of its third generation clinical variant detection tool, VAAST variant prioritizer (VVP), which will be available on Build 38 (Yandell, et al., BMC Bioinformatics 2018). VVP is a highly scalable algorithm, able to prioritize sequence variants anywhere in the genome for rapid, accurate variant interpretation.