Malin Melin

A national ecosystem for long-read genome sequencing: Integrating population genomics and rare disease diagnostics in Sweden

This paper evaluates the clinical use of long-read genome sequencing in Sweden, showing it provides molecular diagnoses and reduces diagnostic costs.

Medically relevant tandem repeats in nanopore sequencing of control cohorts

The paper introduces PathSTR, a tool for analyzing tandem repeats using long-read sequencing, and demonstrates its application in a Myotonic Dystrophy type 1 case.

Towards routine long-read sequencing for rare disease: a national pilot study on chromosomal rearrangements

This study evaluates HiFi Revio long-read sequencing for detecting chromosomal rearrangements in rare diseases, showing high accuracy for breakpoint junctions and derivative chromosome structures.