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Diverse Genomic Variation Analytics Panel Created

Population genetics

(National Human Genome Research Institute, NIH)

14 June 2021. A synthetic biology company and genetics research service are providing analytics on population genomic variations they say are more racially and ethnically diverse. Twist Bioscience Corp. in South San Francisco is offering the Twist Diversity SNP panel in a collaboration with Regeneron Genetics Center in Tarrytown, New York.

Twist Bioscience develops synthetic genetic materials on a silicon platform, patterned after semiconductors, instead of traditional plastic plates and receptacles. This process, says the company, overcomes conventional limitations and inefficiencies to design and construct genes, oligonucleotide collections for Crispr genome-editing RNA, and libraries of genetic variations. Twist says its process based on semiconductors makes it possible to reduce the chemical reaction volumes required, but at the same time increase production throughput by a factor of 1,000. As a result, says the company, it can produce 9,600 genes on a single chip, while traditional plastic lab plates produce a single gene in the same space.

Twist Bio uses its technology to produce the Twist Diversity SNP panel, a collection of some 1.4 million granular variations, called single nucleotide polymorphisms, or SNPs (pronounced snips) that occur throughout the human genome. The company says it creates the panel from more than 600,000 DNA probes, single strands of DNA with identifying markers for detecting complementary DNA sequences.

Adding in underrepresented races and ethnic groups

Regeneron Genetics Center is a subsidiary of the biotechnology company Regeneron that applies high-throughput genomic sequencing to discovery of new treatments. The center sequences exomes that cover the exons, or protein coding regions of the human genome. Exomes account for only a small part, 1 to 2 percent, of base pairs in the genome, but they represent about 85 percent of all disease causing mutations. The Regeneron center then correlates results of the whole exome sequencing to de-identified medical records.

For the Twist Diversity SNP panel, Regeneron is providing high-throughput sequencing for population genomic research, a branch of the field that assesses genetic variations associated with occurrences of disease in a population. Many of the genetic databases used in population studies, say the companies, are based largely on people of European descent. As a result, many races and ethnic groups are underrepresented in these studies, which limits their value is discovering new therapies with worldwide applicability.

“Collaborating with Regeneron to optimize the assay with content from multiple ethnicities,” says Emily Leproust, Twist Bio’s CEO in a company statement, “enables increased characterization of diverse populations to improve understanding around disease and potentially therapeutic development as well.”

Twist Bio says its Diversity SNP panel can be accessed separately to find the presence of specific genetic variants or integrated with the company’s Human Comprehensive Exome panel to provide an ethnicity-neutral reference standard for evaluating genomic sequencing results. The company says the service also supports more complex genetic analyses and makes it possible for pharma and biotech labs to consolidate separate genomic, exome, and custom sequencing panels.

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