Author

Andreas Laner

Medical Genetics CenterORCID 0000-0003-4596-7293Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Organism:human· 1

Frequent Co-Authors

Alexandra MartinsiD· 2 shared Carli M.J. TopsiD· 2 shared Elisabet OgnedaliD· 2 shared Ester Borràs· 2 shared Finlay MacraeiD· 2 shared Gabriel CapelláiD· 2 shared Ian M. FraylingiD· 2 shared Khalid MahmoodiD· 2 shared

Activity by Year

2024-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alexandra MartinsORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMay 13, 2024

Mismatch repair gene specifications to the ACMG/AMP classification criteria: Consensus recommendations from the InSiGHT ClinGen Hereditary Colorectal Cancer / Polyposis Variant Curation Expert Panel

John‐Paul Plazzer, Finlay Macrae, Xiaoyu Yin…·Andreas Laner

The paper specifies MMR gene-specific criteria to the ACMG/AMP classification system, reclassifying some variants and providing a framework for improved pathogenicity assessment.

7 citations

statistical modelvariant effect prediction

Genetic & Genomic MedicinemedRxivPreprintMay 3, 2024

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…·Stefan Aretz

DOI 10.1101/2024.05.03.24306761

humanstatistical model