Author

Margareta Nordling

Linköping UniversityORCID 0000-0002-4047-4994Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:experimental assay· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Adam AmeuriD· 1 shared Alexandra MartinsiD· 1 shared Alexandra TopaiD· 1 shared Andreas LaneriD· 1 shared Andrew R. LatchfordiD· 1 shared Anna LindstrandiD· 1 shared Anna RohliniD· 1 shared Anna Sandestig· 1 shared

Activity by Year

2023-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Adam AmeurORCID

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2 papers

Recent·Most cited

Systematic large-scale application of ClinGen InSiGHT APC-specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases

Xiaoyu Yin, Marcy E. Richardson, Andreas Laner, Xuemei Shi, Elisabet Ognedal, Valeria Vasta, Thomas van Overeem Hansen, Marta Pineda, Deborah Ritter, Johan T. den Dunnen, Emadeldin Hassanin, Wencong Lyman Lin, Ester Borràs, Karl Krahn, Margareta Nordling, , Stefan Aretz

medRxiv · May 3, 2024 · 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