Author

Ayushi Hegde

The Jackson Laboratory for Genomic Medicine

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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Bioinformatics· 1

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

Frequent Co-Authors

Damian P. SmedleyiD· 1 shared Daniel DanišiD· 1 shared Giorgio ValentiniiD· 1 shared Julie A. McMurryiD· 1 shared Julius O.B. JacobseniD· 1 shared Leigh CarmodyiD· 1 shared Melissa Anne HaendeliD· 1 shared Michael A. GarganoiD· 1 shared

Activity by Year

2021-2021 · peak 1/yr

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9 top collaborators · 36 mutual co-author links

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1 shared paperBioinformatics

Damian P. SmedleyORCID

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1 paper

Recent·Most cited

BioinformaticsThe American Journal of Human GeneticsPeer-reviewedJul 21, 2021

Interpretable prioritization of splice variants in diagnostic next-generation sequencing

Daniel Daniš, Julius O.B. Jacobsen, Leigh Carmody…·Peter N. Robinson

SQUIRLS prioritizes splice variants by calculating interpretable features and achieving higher accuracy and speed than existing methods in simulated exomes.

70 citationstop 1%

whole-exome sequencingstatistical model

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