Phase Genomics and Pacific Biosciences release genome assembly phasing software

Phase Genomics and Pacific Biosciences, Inc. announce the release of the FALCON-Phase software as part of a new co-development effort to improve the FALCON-Unzip genome assembly method for providing high-quality, phased diploid genome assemblies.

FALCON-Phase augments PacBio Single Molecule, Real-Time (SMRT) Sequencing-based assemblies with Hi-C proximity-ligation data to generate accurate phased diploid assemblies. Using Phase Genomics’ genome scaffolding technologies and FALCON-Phase, maternal and paternal haplotypes can be separated or “phased” on a chromosomal scale.

“You essentially get two genomes for the price of one with the FALCON-Phase software yielding both maternal and paternal haplotypes,” says Dr. Ivan Liachko, CEO and co-founder of Phase Genomics, “The combination of SMRT Sequencing and long-range genomic contiguity captured by Hi-C data is very powerful and presents a straightforward solution to a problem experienced by almost all genomic researchers working with diploid organisms.”

High-quality phased haplotypes provided by FALCON-Phase can, has many uses, including the facilitation of studying inherited disease and improving agricultural programs, such as increasing the efficacy of livestock and plant breeding.

“SMRT Sequencing produces the most accurate and contiguous genome assemblies on the market, and the ultra-long-range genomic connectivity of the in vivo Hi-C method serves as a perfect complement to SMRT Sequencing of large and complex genomes, helping to achieve full chromosome-level contiguity and phasing,” says Dr. Jonas Korlach, chief scientific officer at Pacific Biosciences. “Our collaboration with Phase Genomics has been truly synergistic and has yielded a method that enables researchers to get more value from long-read SMRT Sequencing and Hi-C technologies alone.”

FALCON-Phase is available as open source to scientists and also as a service through Phase Genomics. Scientists can utilize the new software to advance their current research and even revive historic genome projects with the addition of Hi-C data.

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