Author

Maggie Williams

North Bristol NHS TrustORCID 0000-0001-6121-2910Unclaimed ORCID profile · follow to get notified of new preprints

Additional preprints under this name without ORCID

Maggie Williams1 paper · Drexel University

Biology Disciplines

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Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 2 Organism:human· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Research Focus:database / resource· 1 Assay:GWAS summary statistics· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Caroline Fiona WrightiD· 2 shared A. C. Gunning· 1 shared Alain CarriéiD· 1 shared Alexandre C. PereiraiD· 1 shared Amanda J. HooperiD· 1 shared Anne O’Donnell‐LuriaiD· 1 shared Annette LeoniD· 1 shared C. Lisa KurtziD· 1 shared

Activity by Year

2021-2022 · peak 2/yr

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10 top collaborators · 17 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Caroline Fiona WrightORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 27, 2022

Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels

S. Cannon, Maggie Williams, A. C. Gunning, Caroline Fiona Wright

The paper evaluates nine in silico pathogenicity prediction tools for small in-frame indels using a dataset from gnomAD, ClinVar, and DDD, finding VEST-indel performs best with AUCs of 0.93 and 0.87.

1 citation

humanGWAS summary statistics

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Genetic & Genomic MedicineGenome MedicinePeer-reviewedJul 18, 2022

Recommendations for clinical interpretation of variants found in non-coding regions of the genome

Jamie M. Ellingford, Joo Wook Ahn, Richard D. Bagnall…·Nicola Whiffin

This paper provides recommendations for interpreting non-coding variants in clinical settings, adapting existing guidelines to account for their role in disease.

262 citationstop 1%

whole-genome sequencingvariant effect prediction

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Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedNov 30, 2021

The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification

Joana Rita Chora, Michael A. Iacocca, Lukáš Tichý…·Mafalda Bourbon

The paper provides consensus guidelines for classifying LDLR variants in Familial Hypercholesterolemia using modified ACMG/AMP criteria.

170 citationstop 1%

humanwhole-exome sequencing

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