Author

Sean Cho

Kennedy Krieger Institute

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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Genomics· 4

Signature Assays, Organisms & Methods

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Organism:human· 4 Assay:whole-genome sequencing· 4 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Research Focus:clustering· 1 Approach:deep learning· 1

Frequent Co-Authors

Alexander Eckehart UrbaniD· 4 shared Alexej S. AbyzoviD· 4 shared Alon GaloriD· 4 shared Andrew J. ChessiD· 4 shared Attila JonesiD· 4 shared Bo ZhouiD· 4 shared Chaggai RosenbluhiD· 4 shared Christopher A. WalshiD· 4 shared

Activity by Year

2021-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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4 shared papersGenomics

Alexander Eckehart UrbanORCID

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4 papers

Recent·Most cited

DeepMosaic: Control-independent mosaic single nucleotide variant detection using deep convolutional neural networks

Xiaoxu Yang, Xin Xu, Martin W. Breuss, Danny Antaki, Laurel Ball, Changuk Chung, Jiawei Shen, Chen Li, Renee D. George, Yifan Wang, Taejeong Bae, Yuhe Cheng, Alexej S. Abyzov, Liping Wei, Ludmil B. Alexandrov, , Sarah B. Emery

DeepMosaic detects mosaic single nucleotide variants without control samples using deep convolutional neural networks, achieving high accuracy and uncovering many variants missed by existing methods.

Nature Biotechnology · Jan 2, 2023Peer-reviewedGenomics

Somatic mosaicism in the mature brain reveals clonal cellular distributions during cortical development

Martin W. Breuss, Xiaoxu Yang, Johannes C. M. Schlachetzki, Danny Antaki, Addison J. Lana, Xin Xu, Changuk Chung, Guoliang Chai, Valentina Stanley, Qiong Song, Traci Fang Newmeyer, An Nguyen, Sydney O’Brien, Marten A. Hoeksema, Beibei Cao, , Xiaowei Zhu

The paper evaluates brain somatic mosaicism in the adult human to identify rules governing cellular distribution during embryogenesis.

Nature · Apr 20, 2022Peer-reviewedGenomics

Comprehensive identification of somatic nucleotide variants in human brain tissue

Brain Somatic Mosaicism Network, Yifan Wang, Taejeong Bae, Jeremy Thorpe, Maxwell A. Sherman, Attila Jones, Sean Cho, Kenneth Daily, Yanmei Dou, Javier Ganz, Alon Galor, Irene Lobón, Reenal Pattni, Chaggai Rosenbluh, Simone Tomasi, , Alexej S. Abyzov

This study identifies somatic SNVs in non-cancerous human brain tissues and establishes best practices for detecting low-frequency variants.

Genome biology · Mar 29, 2021Peer-reviewedGenomics

Machine learning reveals bilateral distribution of somatic L1 insertions in human neurons and glia

Xiaowei Zhu, Bo Zhou, Reenal Pattni, Kelly Gleason, Chunfeng Tan, Agnieszka Kalinowski, Steven A. Sloan, Anna-Sophie Fiston-Lavier, Jessica Mariani, Dmitri A. Petrov, Ben A. Barres, Laramie E. Duncan, Alexej S. Abyzov, Hannes S. Vogel, Brain Somatic Mosaicism Network, , Gary W. Mathern

The paper introduces a machine learning method to detect somatic L1 insertions in human brain tissue, revealing their widespread distribution in neurons and glia and potential role in neuropsychiatric diseases.

Nature Neuroscience · Jan 11, 2021Peer-reviewedGenomics