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Q&A: PacBio HiFi genome sequencing to uncover rare disease mysteries

EPM fires some questions with Neil Ward, PacBio, to learn of the trends of 2023, and how its HiFi genome sequencing technology will be used in collaboration with Boston Children's Hospital to uncover novel mutations in rare paediatric diseases.

Q&A: PacBio HiFi genome sequencing to uncover rare disease mysteries
Published: | 4 min read

Rebekah Jordan fires some questions with Neil Ward, vice president and general manager for Europe, Middle East, and Africa, PacBio, to learn of the trends of 2023, and how its HiFi genome sequencing technology will be used in collaboration with Boston Children's Hospital to uncover novel mutations in rare paediatric diseases.

We expect to see significant innovation in 2023 in cancer research. Genomic sequencing plays a central role in cancer – from diagnosis, to allowing us to better understand its complex biology and progression at a molecular level, to pain management and treatment advice. Recent years have seen significant advances in the development of both long- and short-read genomic sequencing. It is these advances that will drive innovation and accelerate the path of research and treatment towards a precision medicine approach.

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