Author

Diego A. Martinez

Broad InstituteORCID 0000-0002-8518-8502Unclaimed 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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Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Research Focus:clustering· 1 Organism:fungi (other)· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1

Frequent Co-Authors

Addie May I. Nesbitt· 1 shared Andrew E. TimmsiD· 1 shared Angela M. BardiD· 1 shared Anna Floyd AveretteiD· 1 shared Avni SantaniiD· 1 shared Aylin DöğeniD· 1 shared Banu MetiniD· 1 shared Brian Gregory George OliveriD· 1 shared

Activity by Year

2018-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Addie May I. Nesbitt

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2 papers

Recent·Most cited

Genetic & Genomic MedicineAmerican Journal of Medical Genetics Part APeer-reviewedJun 19, 2024

Known pathogenic gene variants and new candidates detected in Sudden Unexpected Infant Death using Whole Genome Sequencing

Angela M. Bard, Lindsay V. Clark, Erdal Coşgun…·Jan‐Marino Ramirez

This study identifies known pathogenic variants and new candidates in SUID using WGS, highlighting genetic factors related to heart disease and redox metabolism.

8 citations

humanwhole-genome sequencing

𝕏 PostBluesky

GeneticsGeneticsPeer-reviewedMar 9, 2018

Whole genome analysis illustrates global clonal population structure of the ubiquitous dermatophyte pathogen Trichophyton rubrum

Gabriela Félix Persinoti, Diego A. Martinez, Wenjun Li…·Christina A. Cuomo

The paper analyzes genome sequences of Trichophyton rubrum and Trichophyton interdigitale to show that T. rubrum is clonal with limited genetic variation and no evidence of sexual reproduction.

63 citationstop 2%

fungi (other)whole-genome sequencing

𝕏 PostBluesky