Author

Amanda Krause

National Health Laboratory ServiceORCID 0000-0002-7157-0807Unclaimed 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:statistical model· 2 Approach:benchmark study· 1 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Aimé Zola LumakaiD· 1 shared Barry ShingwenyanaiD· 1 shared Benedikt Westphalen· 1 shared Cezary CybulskiiD· 1 shared Clare TurnbulliD· 1 shared D. Gareth EvansiD· 1 shared Elena CastroiD· 1 shared Engela Magdalena HoneyiD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Aimé Zola LumakaORCID

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2 papers

Recent·Most cited

Copy Number Variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders, the DDD-Africa study

Nadja Louw, Prince Bamba Makay, Phelelani Thokozani Mpangase, Barry Shingwenyana, Zandisiwe Goliath, Thirona Naicker, Laura M. Yates, Engela Magdalena Honey, Gerrye Lumbono Mubungu, Kris Van Den Bogaert, Helen V. Firth, Matthew E. Hurles, Prosper Lukusa-Tshilobo, Koenraad Devriendt, Amanda Krause, , Zané Lombard

The paper demonstrates that integrating CNV detection into exome sequencing analysis improves diagnostic yield for developmental disorders in the DDD-Africa cohort by 8.3% without additional costs.

European Journal of Human Genetics · Jul 9, 2026Peer-reviewedGenetic & Genomic Medicine

Breast cancer multigene germline panel testing in mainstream oncology based on clinical-public health utility (cancer mortality benefit): ESMO Precision Oncology Working Group recommendations

Clare Turnbull, Maria Isabel Achatz, Judith Balmañà, Elena Castro, Giuseppe Curigliano, Cezary Cybulski, Susan M. Domchek, D. Gareth Evans, Helen Hanson, N. Hoogerbrugge, Paul Andrew James, Amanda Krause, Katherine L. Nathanson, J. Ngeow Yuen Yie, Mark E. Robson, , William David Foulkes

The paper recommends a standardized multigene germline panel for breast cancer patients based on cancer mortality benefit, including specific genes and excluding others.

medRxiv · Feb 25, 2025 · PreprintGenetic & Genomic Medicine