Author

Diane B. Zastrow

Stanford MedicineORCID 0000-0002-8506-6812Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genomics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Approach:benchmark study· 1 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Craig SmailiD· 2 shared Devon E. BonneriD· 2 shared Laure FrésardiD· 2 shared Matthew Thomas WheeleriD· 2 shared Nicole M. FerraroiD· 2 shared Stephen B. MontgomeryiD· 2 shared Undiagnosed Diseases Network· 2 shared Xin LiiD· 2 shared

Activity by Year

2018-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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2 shared papersGenomics

Craig SmailORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineGenome MedicinePeer-reviewedJan 17, 2022

ClinGen Variant Curation Interface: A Variant Classification Platform for the Application of Evidence Criteria from ACMG/AMP Guidelines

Christine G. Preston, Matt W. Wright, Rao Madhavrao…·Helio A. Costa

The paper introduces the ClinGen Variant Curation Interface, a platform for applying ACMG/AMP guidelines to classify genetic variants, enabling collaboration and standardization in clinical variant interpretation.

81 citationstop 1%

humanwhole-exome sequencing

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GenomicsNature GeneticsPeer-reviewedMar 1, 2021

Systematic assessment of regulatory effects of human disease variants in pluripotent cells

Marc Jan Bonder, Craig Smail, Michael J. Gloudemans…·Oliver Stegle

The paper maps regulatory effects of human disease variants in pluripotent cells, identifying cis- and trans-QTL across 18,556 genes and linking them to GWAS traits.

76 citationstop 1%

humanbulk RNA-seq

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GenomicsbioRxivPreprintSep 4, 2018

Identification of rare-disease genes in diverse undiagnosed cases using whole blood transcriptome sequencing and large control cohorts

Laure Frésard, Craig Smail, Kevin S. Smith…·Stephen B. Montgomery

This study evaluates the use of whole blood transcriptome sequencing for diagnosing rare diseases, finding an 8.5% diagnostic rate across 56 undiagnosed cases.

10 citations

humanwhole-exome sequencing

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