Why invest in ultra-deep bulk sequencing if you can accurately detect the rarest of somatic mutations in single neurons?


The nervous system is comprised of morphologically and functionally diverse neurons to support a web of unique neural networks. It is now known that individual neurons are also genetically heterogeneous, accumulating somatic mutations during development and aging. This mosaicism impacts cognition and behavior, and contributes to neurological disorders such as multiple sclerosis, Alzheimer's disease, Parkinson's disease, epilepsy, and stroke.

Unlike cancer mutations, somatic mutations in neural tissues are often non-clonal. Ultra-deep bulk sequencing of very small tissue samples offers one approach for detecting and characterizing these unique mutations, but is technically challenging and can be cost-prohibitive.

BioSkryb’s highly uniform single-cell whole genome amplification (WGA) technology (PTA) eliminates the allelic imbalance and artifacts resulting from other WGA methods such as multiple displacement amplification (MDA). Combined with next-generation computational tools (such as SCAN2, see manuscript below), PTA enables the accurate and precise detection of both clonal and non-clonal somatic single nucleotide variants (SNVs), small insertions and deletions (indels), and copy number variation (CNV) in the genomes of single neurons. This represents a technological breakthrough in elucidating the enigma of brain and other neural mosaicism, ultimately supporting improved diagnosis and personalized treatment.

PTA is our method of choice if you want reproducible, efficient, and evenly amplified genomes from single cells for single nucleotide variant detection."

Christopher Walsh

Bullard Professor of Neurology, Harvard Medical School Chief Division of Genetics, Boston Children’s Hospital Investigator, Howard Hughes Medical Institute