Golden Helix refactors HSPH's software for studying disease heritability in families

Today, Golden Helix, Inc., a global leader in genetic analysis solutions, announced a collaboration with Harvard School of Public Health (HSPH) under which Golden Helix is refactoring PBAT, HSPH's software for studying disease heritability in families.

“Collaborating with academia to accelerate the adoption of new analytic methods is an important focus of ours. The goal is to integrate them into a full-featured, user-friendly package, increasing both usability and adoption”

PBAT (Pedigree-Based Association Tool), originally developed eight years ago by Dr. Christoph Lange of HSPH, is an extensive array of advanced statistical routines used in the design and analysis of family-based SNP and CNV association studies. Though a command-line version of the software is available from the university free of charge for academic use, several years ago HSPH granted Golden Helix an exclusive license to develop and distribute a commercial version of the software. At the onset of this partnership, Golden Helix created a graphical user interface to PBAT as well as extensive documentation, all of which are now incorporated into the company's SNP & Variation Suite (SVS) 7.

Over the last six months, Golden Helix has been working with HSPH researchers to fundamentally rewrite the original PBAT code, providing the additional software engineering expertise required to dramatically improve performance on large-scale data, and to build a more robust code base that will streamline the implementation of new methods.

Gabe Rudy, Golden Helix vice president of product development, said, "Working 'under the hood,' so to speak, we were able to build a platform that facilitates method improvements, runs faster, is more stable, and eliminates parameter constraints. Users will now be able to analyze larger family structures on more than one marker at a time, and with more options for interaction variables, thereby increasing the power to detect disease heritability."

"Collaborating with academia to accelerate the adoption of new analytic methods is an important focus of ours. The goal is to integrate them into a full-featured, user-friendly package, increasing both usability and adoption," stated Andy Ferrin, EVP of business development at Golden Helix. "It has been rewarding to work with Dr. Lange and his team in that context, and we look forward to continuing our long and fruitful partnership with Harvard School of Public Health."