Anna Rohlin

MAVISp: A Modular Structure-Based Framework for Protein Variant Effects

MAVISp provides a modular structural framework for analyzing protein variant effects, offering over eight million variants across 1000 proteins with curated data and a web server for accessibility.

Interpreting the Effects of DNA Polymerase Variants at the Structural Level Using MAVISp and Molecular Dynamics Simulations

The paper uses MAVISp and molecular dynamics simulations to analyze DNA polymerase variants, classifying VUS and predicting functional consequences of POLE and POLD1 variants.

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.