This Perspective introduces near-perfect genome sequencing, which encompasses diploid genome assembly, pangenome references and artificial intelligence-driven variant interpretation, and proposes a ro...

Basecamp Research’s recent selection of PacBio HiFi sequencing to support its Trillion Gene Atlas initiative highlights an important shift in biological AI.

With the introduction of SPRQ-Nx, HiFi sequencing has now become the most affordable long-read sequencing technology to date.

Analysis of more than 95% of each diploid human genome of a four-generation, twenty-eight-member family using five complementary short-read and long-read sequencing technologies provides a truth set t...

Analysis of more than 95% of each diploid human genome of a four-generation, twenty-eight-member family using five complementary short-read and long-read sequencing technologies provides a truth set t...

Structural variants are genomic variants that impact at least 50 nucleotides and can play major roles in diversity and human health. Many structural variants are complex multi-breakpoint rearrangement...

ESHG 2022 COVID-19 Information Discover the ESHG 2025 - Hybrid Conference programme. We are proud to announce the confirmed 2025 speakers. Stay updated on matters related to the ESHG soc...

AbstractMotivation. Structural variants (SVs) play an important role in evolutionary and functional genomics but are challenging to characterize. High-accu

Clinical short-read exome and genome sequencing approaches have positively impacted diagnostic testing for rare diseases. Yet, technical limitations a…

A phase-aware pharmacogenomic diplotyper for PacBio datasets - PacificBiosciences/pb-StarPhase

PacBio is always looking to add the best and brightest minds to our world-class company. Our highly interdisciplinary team is best suited for individuals who are creative, forward thinking, and who ap...

A common procedure for studying the microbiome is binning the sequenced contigs into metagenome-assembled genomes. Currently, unsupervised and self-supervised deep learning based methods using co-abun...

New long-read sequencing chemistry reduces DNA input requirements four-fold, enables a 33% increase in data output per SMRT Cell, improves methylation calling, and expands support for multiomics Trans...

Changes Adds a new segmentation mode based on Circular Binary Segmentation. This mode generates a BED file of methylated, unmethylated, and ASM regions. The mode is executed with methbat segment ....