January 2, 2024 | Human genetics research
Asset Type: Media article
December 31, 2023 | Human genetics research
Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition
December 12, 2023 | Human genetics research
Isoform-resolved transcriptome of the human preimplantation embryo
November 7, 2023 | Human genetics research
De novo genome assemblies from two Indigenous Americans from Arizona identify new polymorphisms in non-reference sequences
November 7, 2023 | Epigenetics
The single-molecule accessibility landscape of newly replicated mammalian chromatin
November 7, 2023 | Neurogenomics
Characterization of Alternative Splicing During Mammalian Brain Development Reveals the Magnitude of Isoform Diversity and its Effects on Protein Conformational Changes
November 7, 2023 | Rare disease
CLN3 transcript complexity revealed by long-read RNA sequencing analysis
October 20, 2023 | Plant + animal biology
The genome and population genomics of allopolyploid Coffea arabica reveal the diversification history of modern coffee cultivars
October 19, 2023 | Rare disease
Identification of a novel 91.5 kb-deletion (αα)FJ in the α-globin gene cluster using single-molecule real-time (SMRT) sequencing
November 29, 2022 | Human genetics research
Transposable element-mediated rearrangements are prevalent in human genomes
Transposable elements constitute about half of human genomes, and their role in generating human variation through retrotransposition is broadly studied and appreciated. Structural variants mediated by transposons, which we call transposable element-mediated rearrangements (TEMRs), are less well studied, and the mechanisms leading to their formation as well as their broader impact on human diversity are poorly understood. Here, we identify 493 unique TEMRs across the genomes of three individuals. While homology directed repair is the dominant driver of TEMRs, our sequence-resolved TEMR resource allows us to identify complex inversion breakpoints, triplications or other high copy number polymorphisms, and additional complexities. TEMRs are enriched in genic loci and can create potentially important risk alleles such as a deletion in TRIM65, a known cancer biomarker and therapeutic target. These findings expand our understanding of this important class of structural variation, the mechanisms responsible for their formation, and establish them as an important driver of human diversity.
November 2, 2022 | Pharmacogenomics
Design and performance of a long-read sequencing panel for pharmacogenomics
Pharmacogenomics (PGx)-guided drug treatment is one of the cornerstones of personalized medicine. However, the genes involved in drug response are highly complex and known to carry many (rare) variants. Current technologies (short-read sequencing and SNP panels) are limited in their ability to resolve these genes and characterize all variants. Moreover, these technologies cannot always phase variants to their allele of origin. Recent advance in long-read sequencing technologies have shown promise in resolving these problems. Here we present a long-read sequencing panel-based approach for PGx using PacBio HiFi sequencing.
July 30, 2015
Clinical NGS
PacBio CSO Jonas Korlach discusses the implications for SMRT Sequencing in clinical research.
July 9, 2015
SMALR Bacterial Epigenetics
Researchers have reported an important advance for using SMRT sequencing for epigenetic studies with a new approach capable of probing epigenetic heterogeneity in a population of seemingly identical bacteria.
July 6, 2015
Following Feasibility Study, UK Registry Plans to Implement PacBio for HLA Typing by Year’s End
GenomeWeb: The UK’s Anthony Nolan Research Institute plans to start using Pacific Biosciences’ sequencing technology routinely for HLA typing by the end of this year after scientists from the institute and PacBio published a feasibility study this spring.