I'm excited to be back in person this year with some really interesting things to talk about. With researchers at Boston Children's Hospital and Harvard Medical School, we generated HiFi WGS datasets for a set of 10 probands with sensorineural hearing loss unexplained by srWES and srWGS.

We found candidate variants consistent with the phenotypes in several samples, and I'll be sharing three examples in poster P16.011.D on Monday and workshop W09 on Sunday.

#ESHG2023 #PacBio

Heading up to Glasgow for ESHG2023. If you'd like to talk about rare disease analysis using PacBio HiFi reads, or even just long read variant calling more generally, please reach out and we'll find some time to meet.

#ESHG2023 #PacBio