Catch up on the science PacBio shared at ASHG 2026

Download our six poster presentations, join our upcoming PureTarget webinar, and apply to win free PureTarget sequencing.

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Poster 8175T: Resolution of the D4Z4 repeat responsible for facioscapulohumeral muscular dystrophy with HiFi sequencing

Featured poster

Resolution of the D4Z4 repeat responsible for facioscapulohumeral muscular dystrophy with HiFi sequencing

Poster 8175T · Omics Technologies · Xiao Chen, PacBio

Kivvi genotypes D4Z4 from HiFi whole genome sequencing data and was validated against gold-standard assays for FSHD.
HiFi data showed different methylation signals in FSHD1 and candidate FSHD2 samples.
Across 601 individuals from five ancestral populations, the team identified common D4Z4 haplotypes, hybrid repeat units and translocation alleles.

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MORE PACBIO POSTER PRESENTATIONS

Presented October 21–23 in the ASHG 2026 Exhibit Hall.

Poster 2046W: One-hour automated HMW DNA extraction from blood and saliva for HiFi sequencing

Poster 2046W · Laboratory Genetics and Genomics

One-hour automated HMW DNA extraction from blood and saliva for HiFi sequencing

Deborah Moine, PacBio

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Poster 8157W: Long-read sequencing identifies and refines genome-wide methylation signals in multiple tumor types

Poster 8157W · Omics Technologies

Long-read sequencing identifies and refines genome-wide methylation signals in multiple tumor types

J. Matt Holt, PacBio

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Poster 8159T: Kinnex-IsoSeq-WDL: Workflows for high throughput analysis of HiFi Kinnex full-length RNA data

Poster 8159T · Omics Technologies

Kinnex-IsoSeq-WDL: Workflows for high throughput analysis of HiFi Kinnex full-length RNA data

Jocelyne Bruand, PacBio

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Poster 2054T: Towards rapid HiFi long-read whole genome sequencing for time-critical rare disease applications

Poster 2054T · Laboratory Genetics and Genomics

Towards rapid HiFi long-read whole genome sequencing for time-critical rare disease applications

Nina Gonzaludo, PacBio

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Poster 7064F: Simultaneous genetic and epigenetic profiling of the human genome at single-base resolution with PacBio HiFi sequencing

Poster 7064F · Epigenomics

Simultaneous genetic and epigenetic profiling of the human genome at single-base resolution with PacBio HiFi sequencing

Guilherme De Sena Brandine, PacBio

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