Author

Adriana Muñoz

Cold Spring Harbor LaboratoryORCID 0000-0001-9645-5015Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Approach:benchmark study· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Assay:GWAS summary statistics· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Boris YamromiD· 2 shared Ivan H. IossifoviD· 2 shared Steven Marks· 2 shared Yoon-ha Lee· 2 shared Adrian R. KraineriD· 1 shared Alex LashiD· 1 shared Chris Fleisch· 1 shared Jake Hall· 1 shared

Activity by Year

2017-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersBioinformatics

Boris YamromORCID

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2 papers

Recent·Most cited

BioinformaticsbioRxivPreprintFeb 8, 2024

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

Liubomir Chorbadjiev, Murat Cokol, Zohar Weinstein…·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.

1 citation

humanwhole-exome sequencing

𝕏 PostBluesky

GeneticsbioRxivPreprintMay 24, 2017

De novo indels within introns contribute to ASD incidence

Adriana Muñoz, Boris Yamrom, Yoon-ha Lee…·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.

3 citations

humanwhole-genome sequencing

𝕏 PostBluesky