Author

Nidhi D Shah

Broad InstituteORCID 0000-0003-0851-8376Unclaimed 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· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Approach:benchmark study· 1 Research Focus:database / resource· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Heidi L. RehmiD· 2 shared Kurt Derek ChristenseniD· 2 shared Matthew S. LeboiD· 2 shared Melissa Kurtz UvegesiD· 2 shared Robert C. GreeniD· 2 shared Alan H. BeggsiD· 1 shared Amy L. McGuireiD· 1 shared Bethany ZettleriD· 1 shared

Activity by Year

2021-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Heidi L. RehmORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMar 18, 2022

Medical Evaluation of Unanticipated Monogenic Disease Risks Identified through Newborn Genomic Screening: Findings from the BabySeq Project

Robert C. Green, Nidhi D Shah, Casie A. Genetti…·the BabySeq Project

The paper evaluates unanticipated monogenic disease risks found in newborns through genomic screening, finding most risks are actionable and lead to medical interventions.

6 citations

humanwhole-genome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedNov 8, 2021

Returning Actionable Genomic Results in a Research Biobank: Analytic Validity, Clinical Implementation and Resource Utilization

Carrie L. Blout Zawatsky, Nidhi D Shah, Kalotina Machini…·Robert C. Green

This study evaluates the feasibility and costs of returning actionable genomic results from a biobank, finding high false positive rates in genotyping and significant under-testing among at-risk individuals.

72 citationstop 2%

humanwhole-exome sequencing

𝕏 PostBluesky