Author

Rotem Ben‐Shachar

Myriad GeneticsORCID 0000-0002-2717-0259Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 2 Approach:simulation· 1 Approach:statistical model· 1

Frequent Co-Authors

Aishwarya ArjunaniD· 1 shared Allison L. GoetschiD· 1 shared Andrea M. LewisiD· 1 shared Ashley Svenson· 1 shared Brad Angle· 1 shared Brittany N. SimpsoniD· 1 shared Dale MuzzeyiD· 1 shared Gabriel A. LazariniD· 1 shared

Activity by Year

2019-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Aishwarya ArjunanORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinePrenatal DiagnosisPeer-reviewedMay 31, 2020

Evaluation and classification of severity for 176 genes on an expanded carrier screening panel

Aishwarya Arjunan, Holly Bellerose, Raul Torres…·Katherine Johansen Taber

This paper classifies 176 genes on an expanded carrier screening panel into severity categories using an algorithm and maps these classifications to ACOG severity criteria.

43 citationstop 3%

statistical modelbenchmarking

𝕏 PostBluesky

GeneticsGenetics in MedicinePeer-reviewedFeb 28, 2019

A Data-Driven Evaluation of the Size and Content of Expanded Carrier Screening Panels

Rotem Ben‐Shachar, Ashley Svenson, James D. Goldberg, Dale Muzzey

The paper evaluates the impact of carrier rate thresholds on expanded carrier screening panels and finds that stricter thresholds reduce at-risk couple detection.

61 citationstop 2%

simulationbenchmarking

𝕏 PostBluesky