Author

Virginia Speare

Ambry Genetics (United States)ORCID 0000-0003-4773-9411Unclaimed 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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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Research Focus:variant effect prediction· 2 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Marcy E. RichardsoniD· 2 shared Adam C. ElNaggariD· 1 shared Amal YussufiD· 1 shared Andrea D. FormaniD· 1 shared Anna C. Raper· 1 shared Anton Mikhailovich SafonoviD· 1 shared Bradley Stephen WubbenhorstiD· 1 shared Carly Bess ScaliseiD· 1 shared

Activity by Year

2020-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Marcy E. RichardsonORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineNature CommunicationsPeer-reviewedApr 1, 2025

A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations

Anton Mikhailovich Safonov, Tomoki T. Nomakuchi, Elizabeth Chao…·Theodore G. Drivas

The paper identifies a higher prevalence of NF1 pathogenic variants using a genotype-first approach, finding many cases with somatic mosaicism and increased cancer risk.

23 citationstop 1%

humanwhole-exome sequencing

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GeneticsScientific ReportsPeer-reviewedAug 11, 2020

Prevalence of pathogenic variants in DNA damage response genes in patients undergoing cancer risk assessment and reporting a personal history of early-onset renal cancer

Tiffiney R. Hartman, Elena V. Demidova, Randy W. Lesh…·Sanjeevani Arora

The paper examines the prevalence of pathogenic variants in DNA damage response genes in early-onset renal cancer patients undergoing genetic testing and finds that DDR gene variants are present in 8.55% of patients.

27 citations

humanDNA methylation

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