Author

Justin Cohen

Yale UniversityORCID 0000-0003-3844-0653Unclaimed 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 Research Focus:variant effect prediction· 2 Assay:CRISPR screen· 1 Approach:experimental assay· 1 Approach:statistical model· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Kaiyue MaiD· 2 shared Kenneth K.H. NgiD· 2 shared Monkol LekiD· 2 shared Nicole J. LakeiD· 2 shared Alison G. ComptoniD· 1 shared Angela LekiD· 1 shared Christine L. O’ConnoriD· 1 shared Dan E. ArkingiD· 1 shared

Activity by Year

2023-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersGenetics

Kaiyue MaORCID

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2 papers

Recent·Most cited

GeneticsNaturePeer-reviewedOct 16, 2024

Quantifying constraint in the human mitochondrial genome

Nicole J. Lake, Kaiyue Ma, Wei Liu…·Monkol Lek

The paper develops a mitochondrial constraint model applied to gnomAD data, revealing strong depletion of expected variation and identifying constrained regions in mtDNA.

63 citationstop 1%

humanwhole-genome sequencing

𝕏 PostBluesky

GeneticsbioRxivPreprintJul 12, 2023

Deep Mutational Scanning in Disease-related Genes with Saturation Mutagenesis-Reinforced Functional Assays (SMuRF)

Kaiyue Ma, Shushu Huang, Kenneth K.H. Ng…·Monkol Lek

This paper introduces SMuRF, a framework for deep mutational scanning in disease-related genes, generating functional scores for all coding variants and aiding in variant interpretation.

3 citations

humanCRISPR screen

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