Discover deeper neuroscience insights
Unlock new insights into the brain with PacBio HiFi long-read sequencing. By delivering high accuracy and long read lengths, HiFi sequencing enables researchers to uncover structural variants, repeat expansions, methylation patterns, and RNA isoforms that short-read methods often miss. These discoveries are driving breakthroughs in Parkinson’s, ALS, Alzheimer’s, and other neurodegenerative diseases, helping researchers accelerate the path to new therapeutic targets and biomarkers.
Explore the range of neuroscience applications
PureTarget
Sequence 38 tandem repeat expansions associated with neurological disease. Get accurate repeat size, sequence, methylation, and deep coverage for mosaicism.
Variant detection
Variant detection to phase alleles and screen for variants including SNPs, complex structural variants like repeat expansions, and long homopolymers
RNA sequencing
RNA sequencing of full-length isoforms of disease-relevant genes to characterize the complete landscape of gene-specific transcripts
WEBINAR: Uncovering isoform landscapes in neurodevelopment and autism: a multiomic approach with long-read sequencing
Hear from researchers at the University of Toronto about how they are leveraging PacBio full-length RNA sequencing with Kinnex as part of a multiomic study for understanding the functional impacts of variants in autism spectrum disorder.
EXPLORE NEUROSCIENCE WEBINARS
HiFi on the brain – advancing Parkinson’s disease research using HiFi sequencing
In this webinar, learn about the sequencing technology that is pushing neuroscience research forward, particularly in Parkinson’s disease. Discover how HiFi whole genome sequencing (WGS) and the PacBio Iso-Seq method provide complete visibility into all genomic variants, reveal crucial transcript isoform information, and ultimately enable the potential development of novel therapeutics.
Powering the future of ALS research with long-read sequencing
In this webinar, Amy Easton, PhD, of Target ALS discuss a large-scale global initiative designed to uncover the genetic causes of Amyotrophic Lateral Sclerosis (ALS). Discover how Target ALS is leveraging PacBio HiFi sequencing across thousands of diverse patient samples to create a comprehensive, open-access resource for the research community. Learn about their strategy to combine deep genetic data with clinical and environmental information to help accelerate the discovery of new therapeutic targets and biomarkers for ALS.
Characterizing C9orf72 repeat expansions and transcripts using HiFi sequencing
In this webinar hear from Mayo Clinic scientist, Evan Udine, on using the PureTarget and Kinnex kits, alongside other PacBio technologies, to push the boundaries of neurodegenerative disease research. The PureTarget repeat expansion panel offers comprehensive sequence information for pathogenic repeats, providing clarity where short reads and traditional methods may fall short, while the Kinnex full-length RNA kit complements genome sequencing by detailing the transcriptome complexities of neurodegenerative diseases.
Application brief
Transform neuroscience breakthroughs with HiFi
Learn how long-read DNA and RNA sequencing can uncover structural variants (SV), repeat expansions, variable number tandem repeats (VNTRs), and novel RNA isoforms in neuroscience.
Blog
Intelligent RNA therapeutics design for Parkinson’s Disease
Learn how researchers used long-read RNA sequencing to identify novel transcript isoforms for the SNCA gene and used it to design antisense oligonucleotide (ASO) candidates that showed promise for reversing Parkinson’s disease pathology.
Application note
Comprehensive genotyping with the PureTarget repeat expansion panel and HiFi sequencing
PureTarget repeat expansion panel 2.0 is a comprehensive panel of 38 neurological disease targets, including 17 ataxia genes and targets for ALS/FTD, Huntington disease and myotonic dystrophy.
Whitepaper
Bulk and single-cell long-read sequencing for neuroscience
This whitepaper highlights publications using long-read RNA sequencing for neuroscience research, ranging from novel isoform discovery, genetic variant risk association, differential isoform detection, to biomarker and therapeutics applications.
Spotlight
Single-nuclei long-read sequencing reveals hidden RNA complexity for neurodegenerative diseases
See how researchers used a targeted approach to identify RNA isoform differences in Alzheimer’s disease (AD), Dementia with Lewy bodies (DLB), and Parkinson’s disease (PD) post-mortem brain sample using single-nuclei long-read sequencing. The expanded knowledge of RNA diversity that may contribute to disease features and could potentially represent therapeutic targets for neurodegenerative diseases.
Read the paper Watch author talk at PRISM 2025
