Author

Ian M. Frayling

Cardiff UniversityORCID 0000-0002-3420-0794Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:statistical model· 3 Organism:human· 2 Research Focus:variant effect prediction· 2 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alexandra MartinsiD· 2 shared Andreas LaneriD· 2 shared Carli M.J. TopsiD· 2 shared Elisabet OgnedaliD· 2 shared Ester Borràs· 2 shared Finlay MacraeiD· 2 shared Gabriel CapelláiD· 2 shared John‐Paul PlazzeriD· 2 shared

Activity by Year

2024-2024 · peak 3/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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3 papers

Recent·Most cited

Genetic & Genomic MedicineJournal of Medical GeneticsPeer-reviewedJul 14, 2024

Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank

Eilidh Fummey, Pau Navarro, John‐Paul Plazzer…·Albert Tenesa

The paper estimates cancer risk in Lynch syndrome carriers using UK Biobank data, finding elevated colorectal and endometrial cancer risks but not breast cancer.

29 citationstop 1%

humanwhole-exome sequencing

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