Author

Maria E. Arcila

Memorial Sloan Kettering Cancer CenterORCID 0000-0001-5824-6554Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Assay:whole-exome sequencing· 3 Research Focus:variant calling· 2 Research Focus:variant effect prediction· 2 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1

Frequent Co-Authors

Ahmet ZehiriD· 3 shared Marc LadanyiiD· 3 shared Michael F. BergeriD· 3 shared Ryan N. PtashkiniD· 3 shared Ryma BenayediD· 3 shared Aijazuddin SyediD· 2 shared Angela Rose BrannoniD· 2 shared Anita S. BowmaniD· 2 shared

Activity by Year

2019-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Ahmet ZehirORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 3, 2022

Enhanced clinical assessment of hematologic malignancies through routine paired tumor:normal sequencing

Ryan N. Ptashkin, Mark David Ewalt, Gowtham Jayakumaran…·Maria E. Arcila

This study presents a paired tumor:normal sequencing dataset for hematologic malignancies, showing improved identification of somatic variants and their clinical relevance.

1 citation

humanwhole-exome sequencing

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GenomicsbioRxivPreprintJun 27, 2020

Enhanced specificity of high sensitivity somatic variant profiling in cell-free DNA via paired normal sequencing: design, validation, and clinical experience of the MSK-ACCESS liquid biopsy assay

Angela Rose Brannon, Gowtham Jayakumaran, Monica S. Diosdado…·Ryma Benayed

The paper describes the development and clinical application of MSK-ACCESS, a liquid biopsy assay that improves the specificity of somatic variant detection in cell-free DNA by using paired normal sequencing.

7 citations

humanwhole-exome sequencing

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GeneticsbioRxivPreprintNov 20, 2019

Oncologic Therapy Shapes the Fitness Landscape of ClonalHematopoiesis

Kelly L. Bolton, Ryan N. Ptashkin, Teng Gao…·Elli Papaemmanuil

The paper shows oncologic therapy increases clonal hematopoiesis with DDR mutations, which predicts risk of therapy-related myeloid neoplasms.

20 citations

humanwhole-exome sequencing

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