The Technology Development team focuses on translational approaches with new sequencing technologies and methodologies and supports the mission to provide high quality genomics as a critical clinical resource. The group is actively researching the integration of short-read (Illumina, 300-500 bp) and long-read (RNA: >500 bp, DNA: >12,000 bp) sequencing for basic and clinical research discovery followed by support for clinical diagnostics.
The Development team works closely with Genomic Services and the Clinical NGS groups focusing on process improvements and protocol standardization within IGM. Major process improvements include automated sample processing (clinical and research DNA and RNA libraries) and sample multiplexing (addition of unique molecular identifiers (UMIs), appropriate index sequence balancing, and dual-indexing) with short-read sequencing technologies.
To complement research and clinical short-read applications, the Development team is testing sample preparation and instrumentation for long-read DNA and RNA sequencing using the Pacific Biosciences Sequel platforms. The goal is to stage basic and clinical research projects with cost-effective and time-sensitive Illumina short-read DNA and RNA sequencing. Cases with novel or challenging findings can then be analyzed with the Sequel systems to place the short-read findings in a greater genomic context. Other applications include long-range amplicon sequencing, full-length 16S microbial sequencing and de novo microbial sequencing/assembly.
Training and education in genomics and bioinformatics are essential components of our mission. Technology Development provides internship opportunities in genomics and bioinformatics to undergraduate and graduate students. We also train and mentor our research faculty and junior scientists through one-on-one consultation and software training as well as workshops.
Please contact MagriniLab@NationwideChildrens.org for any questions on collaborative offerings.