Author

Marie-Louise Bondeson

Uppsala UniversityORCID 0000-0002-3391-5341Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genomics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 3 Organism:human· 3 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Assay:long-read sequencing· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Adam AmeuriD· 3 shared Ida HöijeriD· 3 shared Lars FeukiD· 3 shared Anna Sandestig· 2 shared Esmee ten Berk de BoeriD· 2 shared Eva‐Lena StattiniD· 2 shared Felix LenneriD· 2 shared Frida Nordin· 2 shared

Activity by Year

2020-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Adam AmeurORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

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

Adam Ameur, Fulya Taylan, Marlene Ek, Jesper Eisfeldt, Susana Häggqvist, Maria Pettersson, Ignas Bunikis, Joakim Klar, Ida Höijer, Maria Strandh, Rebecca Josefson, Michela Barbaro, Anna Beskow, Anders Blomberg, Marie-Louise Bondeson, , Hans Ehrencrona

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

medRxiv · Oct 13, 2026 · PreprintGenetic & Genomic Medicine

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

Jesper Eisfeldt, Adam Ameur, Felix Lenner, Esmee ten Berk de Boer, Marlene Ek, Josephine Wincent, Raquel Vaz, Jesper Ottosson, Tord Jonsson, Sofie E Ivarsson, Sofia Thunström, Alexandra Topa, Simon Stenberg, Anna Rohlin, Anna Sandestig, , Anna Lindstrand

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.

medRxiv · Dec 15, 2023 · PreprintGenetic & Genomic Medicine

Amplification-free long read sequencing reveals unforeseen CRISPR-Cas9 off-target activity

Ida Höijer, Josefin Johansson, Sanna Gudmundsson, Chen-Shan Chin, Ignas Bunikis, Susana Häggqvist, Anastasia Emmanouilidou, Maria Wilbe, Marcel den Hoed, Marie-Louise Bondeson, Lars Feuk, Ulf B Gyllensten, Adam Ameur

The paper introduces amplification-free long-read sequencing protocols to detect CRISPR-Cas9 off-target binding sites, identifying many previously undetected sites that are not predicted by existing software.

Genome biology · Dec 1, 2020Peer-reviewedGenomics