PacBio, a leader in long-read sequencing, announced its involvement in a groundbreaking study published in Nature Genetics that explores a rare Mendelian condition.

Collaborating with the University of Washington and the Undiagnosed Diseases Network, researchers analyzed a 9-month-old patient presenting complex symptoms, including bilateral retinoblastomas and developmental delays.

Traditional diagnostic methods, such as short-read sequencing, were ineffective in providing answers, prompting researchers to utilize PacBio’s Revio™ sequencing system for a more comprehensive analysis.

The study employed synchronized multiomic sequencing, allowing researchers to gather insights into the genome, methylome, epigenome, and transcriptome data in a single run, thus avoiding redundant experiments.

Using PacBio's advanced sequencing technologies, the study revealed various pathogenic events, providing a complete genomic picture of the disease and its underlying mechanisms.

This technology facilitated precise phasing of genetic, epigenetic, and transcriptomic features, which is crucial for understanding the impact of rare genetic variants.

Among the key findings, the study identified a balanced translocation on chromosome X;13 that disrupts four critical genes through unique molecular mechanisms.

Andrew B. Stergachis, MD, PhD, highlighted the significance of highly accurate long-read sequencing in unraveling the complexities of rare diseases.