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Title

Somatic Mutations in Single Neurons

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Abstract

Somatic mutations occur during brain development and are increasingly implicated as a cause of neurogenetic disease. However, the frequency and patterns of somatic mutations in the human brain have not been explored in detail. We will describe our analysis of high-coverage whole-genome sequencing of single neurons from normal individuals. These data have allowed us to identify somatic mutations including single nucleotide variants and retrotransposition events, enabling tracking of cell lineage clones and revealing a polyclonal architecture of the cerebral cortex.

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Educational and Professional Experience

Year

Institute

Position

2016-Current

Biomedical Engineering, UNIST, Korea

Assistant Professor

2011-2016

Department of Biomedical Informatics, Harvard Medical School, USA

Research Fellow

2011

Department of Biochemistry, University of Cambridge, UK

PhD

2005

Department of BioSystems, KAIST, Korea

MSc

2003

School of Biological Sciences, Seoul National University, Korea

BA

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Selected Publications

1. Lodato MA*, Woodworth MB*, Lee S*, Evrony GD, Mehta BK, Karger A, Lee S, Chittenden TW, Cai X, Luquette LJ, Lee E, Park PJ, Walsh CA. Mosaic Mutations Trace Developmental and Transcriptional Histories of Single Human Neurons. Science. 2015 Oct 2;350(6256):94-8. (*Co-first authors)

2. The Cancer Genome Atlas Network. Comprehensive molecular profiling of lung adenocarcinoma. Nature. Jul 31;511(7511):543-50.

3. Lee S and Bolanos-Garcia VM. The dynamics of signal amplification by macromolecular assemblies for the control of chromosome segregation. Front Physiol. 2014 Sep 29;5:368.

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