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10x Genomics, Berry Genomics Partner On NIPT

By Diagnostics World News

January 8, 2018 | 10x Genomics and Berry Genomics announced a collaboration today to further develop approaches for next generation noninvasive prenatal testing (NIPT). The parties will collaborate to enable a new service offering for Berry Genomics.

The collaboration was announced in conjunction with the J.P. Morgan Healthcare Conference in San Francisco. 10x Genomics also reported $71 million in revenue for 2017 at the company’s presentation.

The collaboration will be the first application of 10x Genomics’ technology in NIPT and is expected to produce new insights by enabling haplotyping of cell-free fetal DNA in maternal plasma for prenatal diagnosis.

A proof-of-concept study for the novel NIPT approach was published in an article, “Universal haplotype- based noninvasive prenatal testing for single gene diseases,” in Clinical Chemistry by Dr. Winnie Hui, Ph.D., a researcher in the laboratory of Dennis Lo (DOI:10.1373/clinchem.2016.268375).

The study demonstrated that linked-read sequencing was able to resolve the haplotypes of parental genomes and to identify single nucleotide polymorphisms (SNPs) within and surrounding disease genes of interest. Following maternal plasma DNA sequencing and relative haplotype dosage (RHDO) analysis was used to infer the mutational status of the fetus for inheritance of Mendelian disorders.

“With this collaboration, we will address an important unmet need in the NIPT market,” said Serge Saxonov, Ph.D., co-founder and chief executive officer of 10x Genomics. “Our technology, with its unique ability to resolve and haplotype genomic information, is well suited for developing NIPT applications. We are looking forward to collaborate with Berry Genomics to advance clinical research and enable a new service offering for our partner in China.”