To identify the genetic drivers of neurological, neuromuscular, and neurodegenerative disorders scientists must have access to the complete genomic landscape, including regions previously deemed impossible to sequence, and the tools to examine the full range of genomic variation.

Connect with a PacBio scientist

Tertiary hero overlay
Sprite decoration

Discover deeper insights

The PacBio systems using Single Molecule, Real-Time (SMRT) sequencing provide exceptionally long reads, uniform coverage and high consensus accuracy. This technology enables scientists to gain a more comprehensive understanding of the genetic basis of neurological disease.

Explore the range of applications

Targeting sequencing

Targeting sequencing of candidate genes with pre-designed capture panels or long-range PCR to enrich and sequence multi-kilobase fragments

Learn more

Variant detection

Variant detection to phase alleles and screen for variants including SNPs, complex structural variants like repeat expansions, and long homopolymers

Learn more

RNA sequencing

RNA sequencing of full-length isoforms of disease-relevant genes to characterize the complete landscape of gene-specific transcripts

Learn more


Epigenetics for a more complete picture of the underlying biological disease mechanisms

Learn more


Alzheimer’s study reveals first somatic gene recombination found in human neurons

Using an impressive array of novel and cutting-edge technologies, the scientists found evidence of significant recombination in the APP gene, which encodes amyloid precursor protein in neurons and has been associated with Alzheimer’s. Explore this research further.

Lee, M.-H. et al. 2018. Somatic APP gene recombination in Alzheimer’s disease and normal neurons. Nature 563(7733):639-645.


Sprite decoration


Sequencing ALS-causing repeat expansion using No-amp targeted sequencing method

Scientists used both whole genome long-read sequencing and amplification-free targeted sequencing using the CRISPR-Cas9 system to gain base-level resolution of the notoriously challenging C9orf72 repeat expansion causing amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).

Ebbert, M. T. W. et al. 2018. Long-read sequencing across the C9orf72 ‘GGGGCC’ repeat expansion: implications for clinical use and genetic discovery efforts in human disease. Molecular Neurodegeneration, 13(1):46.

Learn more about the No-amp targeted sequencing method.

Talk with an expert

If you have a question, need to check the status of an order, or are interested in purchasing an instrument, we're here to help.