Author

Alexander Y. Ing

Harvard UniversityORCID 0000-0001-5233-2937Unclaimed 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· 2 Research Focus:variant effect prediction· 2 Assay:whole-exome sequencing· 2 Research Focus:benchmarking· 1 Organism:human· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Anne O’Donnell‐LuriaiD· 2 shared Birgit FunkeiD· 2 shared Daniel G. MacArthuriD· 2 shared Eric Vallabh MinikeliD· 2 shared James S. WareiD· 2 shared Konrad J. KarczewskiiD· 2 shared Nicola WhiffiniD· 2 shared Paul J.R. BartoniD· 2 shared

Activity by Year

2017-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenomics

Anne O’Donnell‐LuriaORCID

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2 papers

Recent·Most cited

GenomicsThe American Journal of Human GeneticsPeer-reviewedJan 1, 2019

Response to Shah et al: Using high-resolution variant frequencies empowers clinical genome interpretation and enables investigation of genetic architecture

Nicola Whiffin, Angharad M. Roberts, Eric Vallabh Minikel…·James S. Ware

The paper responds to a critique of their variant filtering method, demonstrating its robustness and highlighting the benefits of using high-resolution variant frequencies for clinical genome interpretation.

18 citations

whole-exome sequencingstatistical model

𝕏 PostBluesky

GenomicsGenetics in MedicinePeer-reviewedMay 18, 2017

Using high-resolution variant frequencies to empower clinical genome interpretation

Nicola Whiffin, Eric Vallabh Minikel, Roddy Walsh…·James S. Ware

The paper presents a statistical framework to filter candidate disease-causing variants using high-resolution variant frequencies, reducing the number of variants under consideration and reclassifying some as pathogenic.

443 citationstop 1%

humanwhole-exome sequencing

𝕏 PostBluesky