Author

Marko T. Boskovski

Brigham and Women's HospitalORCID 0000-0002-3158-3144Unclaimed 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 Assay:whole-genome sequencing· 2 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Bruce D. GelbiD· 2 shared Christine E. SeidmaniD· 2 shared Elizabeth GoldmuntziD· 2 shared Jonathan G. SeidmaniD· 2 shared Martin Tristani‐FirouziiD· 2 shared Martina K. BrueckneriD· 2 shared Wendy K. ChungiD· 2 shared Amy E. RobertsiD· 1 shared

Activity by Year

2018-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 43 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Bruce D. GelbORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineNature CommunicationsPeer-reviewedJul 10, 2025

Genome Sequencing is Critical for Forecasting Outcomes Following Congenital Cardiac Surgery

W. Scott Watkins, Edgar Javier Hernandez, Thomas A. Miller…·Martin Tristani‐Firouzi

This study uses AI to show that genome sequencing can predict adverse outcomes after congenital heart defect surgery by identifying damaging genotypes in specific genes.

7 citationstop 4%

humanwhole-genome sequencing

𝕏 PostBluesky

GeneticsHuman MutationPeer-reviewedMar 11, 2018

Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors

Kathryn B. Manheimer, Nihir Patel, Felix Richter…·Andrew J. Sharp

The paper introduces MEM, a method to identify deletion CNVs in WES and WGS trio data by clustering Mendelian errors, achieving high validation rates and detecting additional de novo deletions and contamination.

5 citations

humanwhole-exome sequencing

𝕏 PostBluesky