Implementation of long-read sequencing for routine molecular diagnosis of familial mediterranean fever.

ABSTRACT:

Background

Long-read sequencing technology, widely used in research, is proving useful in clinical diagnosis, especially for infectious diseases. Despite recent advances, it hasn't been routinely applied to constitutional human diseases. Long-read sequencing detects intronic variants and phases variants, crucial for identifying recessive diseases.

Methods

We integrated long-read sequencing into the clinical diagnostic workflow for the MEFV gene, responsible for familial Mediterranean fever (FMF), using a Nanopore-based workflow. This involved long-range PCR amplification, native barcoding kit library preparation, GridION sequencing, and in-house bioinformatics. We compared this new workflow against our validated method using 39 patient samples and 3 samples from an external

SUBMITTER: Vanhoye X 

PROVIDER: S-EPMC11369391 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature