Children's Mercy Kansas City is partnering with biotechnology company Pacific Biosciences of California and Microsoft on a genomic research and tech development project to combat rare diseases.
Children's Mercy and Pacific Biosciences will work together to sequence a cohort of rare disease cases that previous sequencing studies could not solve, according to the Oct. 15 news release. The health system will use Pacific Biosciences' sequencing technology to create highly accurate long reads, called HiFi reads, which clinical researchers have found can detect disease-causing structural and small variants missed by short-read sequencing platforms.
As part of the project, Children's Mercy Research Institute launched Genomic Answers for Kids, which is a clinical data repository that facilitates search answers and new treatments for pediatric genetic conditions. The health system hopes to collect genomic data and health information for 30,000 children and their families over the next seven years to create a database of nearly 100,000 genomes.
Children's Mercy and Pacific Biosciences will work with the Microsoft Genomics team to develop cloud-based technologies and a data repository for the genomic dataset on Microsoft Azure.