Principal Investigator

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E. Alice Lee, PhD

Principal Investigator
PhD in Bioinformatics, KAIST (Korea Advanced Institute of Science and Technology)

Alice is a Principal Investigator in the Division of Genetics and Genomics at Boston Children’s Hospital (BCH) and an Assistant Professor at Harvard Medical School (HMS). She is also an Associate Member of the Broad Institute of Harvard and MIT and a faculty member of the Harvard Bioinformatics and Integrative Genomics (BIG) PhD Program. She runs a research program focusing on repetitive DNA, particularly transposable elements, and somatic mutations  in human diseases using cutting-edge genomic technologies, envisioning the translation of her scientific discoveries into improved healthcare outcomes. She won an NIH K01 Award for work on somatic mutations in neurodegenerative disorders, and serves on the Editorial Board of MobileDNA, a journal dedicated to transposable elements.... Read more about E. Alice Lee, PhD

Postdoctoral Fellows

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Jaejoon (Jason) Choi, PhD

Postdoctoral Fellow
PhD in Bioinformatics, KAIST
Jason joined the lab in February, 2018 as a postdoctoral fellow. He received his Ph.D. in bioinformatics from KAIST in 2017. His PhD theisis focused on the analysis of network motifs in various real-world networks including moelcular interaction networks. During his training in bioinformatics for over ten years, he studied multiple topics including text mining, network layout algorithms, network motif analysis, modeling language development, drug repositioning and efficacy prediction, and network model development. His broad interests and experiences in bioinformatics have enabled him to quickly formulate new biomedical problems and cope with computational solutions dealing with diverse types of biological data . His current training mainly focuses on the analysis of whole genome sequencing data, especially on the analysis of repetitive elements.
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August Yue Huang, PhD

Postdoctoral Fellow
PhD in Bioinformatics, Peking University

August joined the lab in 2017 as a postdoctoral fellow after a two-year postdoctoral training at Matthew Warman’s lab in Boston Children’s Hospital. He received his PhD in Bioinformatics at Peking University (Beijing, China). His previous work focused on identifying somatic mutations from next-generation sequencing data and understanding the characteristics of somatic mutations in disease and healthy human genomes. During his PhD studies, he developed a computational algorithm named MosaicHunter, which is able to identify somatic mutations from whole-genome or whole-exome sequencing data without the requirement of matched control samples. Then he successfully applied MosaicHunter to discover the pathogenic role of somatic mutations in several non-cancer human diseases, including autism and arteriovenous malformation. His primary research interest is to investigate whether and how genomic factors shape the distribution of somatic mutations in neuron and other cell types by combining bulk and single-cell genomic sequencing techniques.


Junho Kim, PhD

Postdoctoral Fellow
PhD in Bioinformatics, KAIST

Junho joined the lab in April, 2017. He received his Ph.D. in bioinformatics from KAIST in 2014 and did two years of postdoctoral training at Yonsei university college of medicine in South Korea. He has developed computational methods  that detect low frequency somatic mutations (methods called RePlow and SoloDel for single nucleotide and copy number variants, respectively) from next-generating sequencing data, and Vecuum, a method that distinguishes true variants from false variants originating from various types of external contamination (e.g., vector contamination). Using his methos, he identified  somatic mutations in several human diseases including schizophrenia and focal cortical dysplasia. His current research focuses on developing computational algorithms for single-cell genome sequencing data to investigate pathogenic mechanisms of neurodegenerative diseases.


Boxun Zhao

Postdoctoral Fellow
PhD in Genetics, Peking Union Medical College and Tsinghua University

Boxun joined the lab in August 2018 as a postdoctoral fellow. He obtained his PhD in Genetics in 2017 from Peking Union Medical College and Tsinghua University in Beijing, China. During his doctoral research in Liping Wei’s laboratory at the National Institute of Biological Sciences (NIBS) and Peking University, he studied somatic transposable element (TE) insertions in the human brain and neurological disorders. He developed a novel experimental protocol and established a bioinformatics pipeline to profile genome-wide TE insertions from bulk tissue samples, and his method is sufficiently sensitive to detect low-clonal TE insertions, i.e., ones present in a small number of cells. He has also... Read more about Boxun Zhao


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Rebeca Borges Monroy

PhD Student, Bioinformatics and Integrative Genomics (BIG)
MSc in Neuroscience, University of Oxford

Rebeca is currently a PhD student in the Bioinformatics and Integrative Genomics program at Harvard University, co-advised with Chris Walsh. She is interested in studying the genome in healthy brain development and how it is altered in disorders and diseases.... Read more about Rebeca Borges Monroy

Software Developers and IT specialists


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Kyu Park

Support Specialist, SOPHiA GENETICS
Junior Bioinformatician (2017-2018)
BS in Computer Science, Wentworth Institute of Technology
Kyu joined the lab as a Junior Bioinformatician in 2017 after studying computer science at Wentworth Institute of Technology. He revised, optimized, and ran the Tea (Transposable Element Analyzer) pipelines for various genomic projects in the lab. He came on board with little knowledge on biology and sequencing data analysis, but due to his hard work, he soon became proficient and moved on to a Support Specialist position in SOPHiA Genetics enjoying his orientation in Switzerland!
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Jia Wang, PhD

Associate Investigator, BIOPIC/ICG, Peiking University, China
Postdoctoral Fellow (2017)
PhD in Neuroscience, Institute of Neuroscience, Chinese Academy of Sciences
Jia received her Ph.D at the Institute of Neuroscience in Shanghai, China and her MS in Biomedical Informatics at Harvard Medical School. She is interested in applying bioinformatics analysis to better understand neurological disorders. She is now an associate investigator at BIOPIC/ICG (Director: X. Sunney Xie) in Peking University.