Shaping the future
Partnering to seek insights on rare disease
Children’s Mercy Kansas City
Experts at Children’s Mercy turn to long-read whole genome sequencing to move beyond microarrays and exomes and provide explanations for the families of children with complex rare disease.
“What long-read sequencing gives us is the internal nucleotide structure. That’s just unprecendented, and it’s extremely valuable.”
— Meredith Course, PhD, Research Fellow University of Washington
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SEQUENCING HISTORIC BACTERIA WITH EASE
PacBio sequencing helped establish the UK’s NCTC, a unique collection of more than 5,000 expertly preserved and authenticated bacterial cultures.
Protein discovery
Scientists at Second Generation teamed up with PacBio to explore how long-read sequencing could supplement a short-read-based pipeline for protein discovery.