Author

Jakob Schuy

Karolinska Institutet

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Adam AmeuriD· 1 shared Ann NordgreniD· 1 shared Anna LindstrandiD· 1 shared Christopher M. GrochowskiiD· 1 shared Claudia M.B. CarvalhoiD· 1 shared Fritz Joachim SedlazeckiD· 1 shared Hsiao‐Tuan ChaoiD· 1 shared James Paul Hwang· 1 shared

Activity by Year

2024-2024 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Adam AmeurORCID

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1 paper

Recent·Most cited

Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions

Kristine Bilgrav Sæther, Jesper Eisfeldt, Jesse D. Bengtsson, Ming Yin Lun, Christopher M. Grochowski, Medhat Mahmoud, Hsiao‐Tuan Chao, Jill Anne Rosenfeld, Pengfei Liu, Jakob Schuy, Adam Ameur, Undiagnosed Diseases Network, James Paul Hwang, Fritz Joachim Sedlazeck, Weimin Bi, , Anna Lindstrand

The paper investigates how different genome references affect inversion detection, showing that T2T-CHM13 and long-read sequencing improve resolution of challenging inversions.

medRxiv · Apr 22, 2024 · PreprintGenetic & Genomic Medicine