10x Genomics, Inc. and Berry Genomics Co. Ltd. announced a collaboration to further develop approaches for next generation noninvasive prenatal testing. The parties will collaborate to enable a new service offering for Berry Genomics.

The collaboration will be the first application of 10x Genomics' technology in NIPT. The collaboration 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.

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.