Author

Rojeen Niazi

Children's Hospital of PhiladelphiaORCID 0000-0002-3116-5778Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:whole-exome sequencing· 2 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Approach:experimental assay· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Ahmad N. Abou TayouniD· 2 shared Mahdi SarmadyiD· 2 shared Michael GonzaleziD· 2 shared Perry EvansiD· 2 shared Avni SantaniiD· 1 shared Batsal DevkotaiD· 1 shared Bryan L. KrockiD· 1 shared Chao WuiD· 1 shared

Activity by Year

2018-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 40 mutual co-author links

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2 shared papersBioinformatics

Ahmad N. Abou TayounORCID

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2 papers

Recent·Most cited

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

Chao Wu, Batsal Devkota, Perry Evans, Xiaonan Zhao, Samuel W. Baker, Rojeen Niazi, Kajia Cao, Michael Gonzalez, Pushkala Jayaraman, Laura Kathleen Conlin, Bryan L. Krock, Matthew A. Deardorff, Nancy Bettina Spinner, Ian D. Krantz, Avni Santani, , Mahdi Sarmady

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

European Journal of Human Genetics · Jan 9, 2019Peer-reviewedBioinformatics

ExomeSlicer: a resource for the development and validation of exome-based clinical panels

Rojeen Niazi, Michael Gonzalez, Jorune Balciuniene, Perry Evans, Mahdi Sarmady, Ahmad N. Abou Tayoun

ExomeSlicer is a web-based resource that identifies technically challenging regions in exome data, aiding in the development and validation of exome-based clinical panels.

Journal of Molecular Diagnostics · Jun 22, 2018Peer-reviewedGenomics