Author

Steven Marks

Cold Spring Harbor Laboratory

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Bioinformatics· 2 Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:variant calling· 3 Approach:experimental assay· 2 Approach:statistical model· 2 Assay:whole-genome sequencing· 2 Approach:benchmark study· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1

Frequent Co-Authors

Boris YamromiD· 3 shared Ivan H. IossifoviD· 3 shared Yoon-ha Lee· 3 shared Adriana MuñoziD· 2 shared Zihua Wang· 2 shared Adrian R. KraineriD· 1 shared Alex LashiD· 1 shared Chris Fleisch· 1 shared

Activity by Year

2016-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 28 mutual co-author links

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3 shared papersBioinformatics

Boris YamromORCID

Mutual co-authors in cluster

Author profile →

4 papers

Recent·Most cited

The Genotype and Phenotypes in Families (GPF) platform manages the large and complex data at SFARI

Liubomir Chorbadjiev, Murat Cokol, Zohar Weinstein, Kevin Y. Shi, Chris Fleisch, Nikolay Dimitrov, Svetlin Mladenov, Simon Xu, Jake Hall, Steven Ford, Yoon-ha Lee, Boris Yamrom, Steven Marks, Adriana Muñoz, Alex Lash, , Ivan H. Iossifov

The GPF platform manages and analyzes large family genotypic and phenotypic data for autism research, enabling variant analysis and secure data sharing.

bioRxiv · Feb 8, 2024 · PreprintBioinformatics

Snakeobjects: an object-oriented workflow management system

Boris Yamrom, Yoon-ha Lee, Steven Marks, Lubomir Chorbadjiev, Hannah V. Meyer, Ivan H. Iossifov

Snakeobjects extends Snakemake to simplify workflow development, improve readability, and maintain portability and scalability.

bioRxiv · Dec 8, 2022 · PreprintBioinformatics

De novo indels within introns contribute to ASD incidence

Adriana Muñoz, Boris Yamrom, Yoon-ha Lee, Peter Andrews, Steven Marks, Kuan‐Ting Lin, Zihua Wang, Adrian R. Krainer, Robert B. Darnell, Michael H. Wigler, Ivan H. Iossifov

The paper identifies de novo intronic indels in autism target genes from simplex families and finds they contribute to at least 10% of simplex autism.

bioRxiv · May 24, 2017 · PreprintGenetics

MUMdex: MUM-based structural variation detection

Peter A. Andrews, Ivan Iossifov, Jude Kendall, Steven Marks, Lakshmi Muthuswamy, Zihua Wang, Dan Levy, Michael Wigler

MUMdex detects structural variations by analyzing maximal unique matches, demonstrating accuracy in simulated and real human genome data.

bioRxiv · Sep 30, 2016 · PreprintGenomics