Author

Rachel G. Son

Broad InstituteORCID 0000-0003-0487-0401Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Anne O’Donnell‐LuriaiD· 1 shared Daniel G. MacArthuriD· 1 shared Eleanor G. SeabyiD· 1 shared Eleina M. England· 1 shared Heidi L. RehmiD· 1 shared Jordan C. WoodiD· 1 shared Konrad J. KarczewskiiD· 1 shared Moriel Singer‐BerkiD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Anne O’Donnell‐LuriaORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedAug 25, 2023

Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data

Moriel Singer‐Berk, Sanna Gudmundsson, Samantha M. Baxter…·Anne O’Donnell‐Luria

This paper presents a framework to reduce false positives in predicted loss-of-function variants by analyzing LoF evasion mechanisms and adjusting ACMG/AMP guidelines.

29 citationstop 3%

humanwhole-exome sequencing

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