Author

Nancy Bettina Spinner

Children's Hospital of PhiladelphiaORCID 0000-0001-8109-3648Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Ahmad N. Abou TayouniD· 1 shared Avni SantaniiD· 1 shared Batsal DevkotaiD· 1 shared Bryan L. KrockiD· 1 shared Chao WuiD· 1 shared Christopher M. GrochowskiiD· 1 shared Ellen A. TsaiiD· 1 shared Ian D. KrantziD· 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 paperBioinformatics

Ahmad N. Abou TayounORCID

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2 papers

Recent·Most cited

GeneticsScientific ReportsPeer-reviewedFeb 17, 2020

Exome Sequencing in Individuals with Isolated Biliary Atresia

Ramakrishnan Rajagopalan, Ellen A. Tsai, Christopher M. Grochowski…·Marcella Devoto

This study performs exome sequencing in 100 patients with isolated biliary atresia to identify genetic variants, finding no common causal genes but a de novo mutation in STIP1.

24 citationstop 5%

humanwhole-exome sequencing

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BioinformaticsEuropean Journal of Human GeneticsPeer-reviewedJan 9, 2019

Rapid and Accurate Interpretation of Clinical Exomes Using Phenoxome: a Computational Phenotype-driven Approach

Chao Wu, Batsal Devkota, Perry Evans…·Mahdi Sarmady

Phenoxome improves clinical exome variant prioritization by integrating phenotypic and genomic data, achieving high accuracy in identifying causative variants.

19 citations

humanwhole-exome sequencing

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