Resolve Complex Human Genetic Variation with Confidence
Drive new discoveries in your clinical research with PacBio highly accurate long reads–HiFi reads.
How Will HiFi Reads Help You Understand Human Health and Disease?
- Get Sanger-quality accuracy (>99.9%) and long read lengths (up to 25 kb) using a single technology solution
- Comprehensively detect and phase all variant types, from SNVs to structural variants, including 5% more variants in the medical exome
- Use the uniform coverage of HiFi reads to sequence through hard-to-access regions of the human genome including repeat expansions, promoters and flanking regions of transposable elements
HiFi Reads Can be Used Across a Range of Applications for Clinical Research
|Targeted Sequencing for accurate detection of all variant types in specific genes or regions using either an amplicon or amplification-free approaches|
|Variant Detection for comprehensive detection of all variants in the genome with high precision and recall|
|Whole Genome Sequencing for generation of reference-quality de novo genome assemblies|
|RNA Sequencing to gain a complete view of transcript isoform diversity – no assembly required – for bulk or single-cell approaches|
Need Inspiration? Learn how our 2019 SMRT Grant winner, Stéphanie Tomé, used SMRT sequencing to detect clinically significant repeat changes in triplet expansion disorders. Read the blog post.
The Clinical Research SMRT Grant Program is Now Closed
Thank you for your interest in the 2021 Clinical Research SMRT Grant Program. We are thrilled to have received many excellent submissions. Please check back, as the winners will be announced in the coming months on our blog!
Learn about upcoming SMRT Grant Programs
Learn about our Co-Sponor
The Icahn Institute for Data Science and Genomic Technology at Mount Sinai is dedicated to developing new technologies that foster discovery and advance clinical practice. Our scientists are experts in a wide array of genomics and sequencing technologies spanning both bulk and single-cell sequencing methods. We are also at the forefront of method development, allowing us to offer cutting edge protocols including extremely low-input library preparation and PCR-free enrichment strategies for targeted sequencing of both DNA and RNA.