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Research Overview

The Lee laboratory studies transposable elements and other types of genomic variations in human disease using computational genomic and bioinformatic approaches. Specifically, we develop and apply computational methods for genomic studies using next-generation sequencing and perform integrative analyses of DNA- and RNA-sequencing data.

Publications

  1. Human cytomegalovirus harnesses host L1 retrotransposon for efficient replication. Nat Commun. 2024 09 02; 15(1):7640. View Abstract
  2. Analysis of REST binding sites with canonical and non-canonical motifs in human cell lines. BMC Med Genomics. 2024 04 17; 17(Suppl 1):92. View Abstract
  3. Prevalence and mechanisms of somatic deletions in single human neurons during normal aging and in DNA repair disorders. Nat Commun. 2022 10 07; 13(1):5918. View Abstract
  4. Somatic mutations in single human cardiomyocytes reveal age-associated DNA damage and widespread oxidative genotoxicity. Nat Aging. 2022 08; 2(8):714-725. View Abstract
  5. A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene. Eur J Hum Genet. 2022 09; 30(9):1083-1087. View Abstract
  6. Somatic genomic changes in single Alzheimer's disease neurons. Nature. 2022 04; 604(7907):714-722. View Abstract
  7. Whole-genome analysis reveals the contribution of non-coding de novo transposon insertions to autism spectrum disorder. Mob DNA. 2021 Nov 27; 12(1):28. View Abstract
  8. Genomic approaches to trace the history of human brain evolution with an emerging opportunity for transposon profiling of ancient humans. Mob DNA. 2021 Oct 18; 12(1):22. View Abstract
  9. Comprehensive identification of transposable element insertions using multiple sequencing technologies. Nat Commun. 2021 06 22; 12(1):3836. View Abstract
  10. Identification and Genotyping of Transposable Element Insertions From Genome Sequencing Data. Curr Protoc Hum Genet. 2020 09; 107(1):e102. View Abstract
  11. APP gene copy number changes reflect exogenous contamination. Nature. 2020 08; 584(7821):E20-E28. View Abstract
  12. Parallel RNA and DNA analysis after deep sequencing (PRDD-seq) reveals cell type-specific lineage patterns in human brain. Proc Natl Acad Sci U S A. 2020 06 23; 117(25):13886-13895. View Abstract
  13. Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition. Nat Genet. 2020 03; 52(3):306-319. View Abstract
  14. Global impact of somatic structural variation on the DNA methylome of human cancers. Genome Biol. 2019 10 15; 20(1):209. View Abstract
  15. Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. N Engl J Med. 2019 10 24; 381(17):1644-1652. View Abstract
  16. An enhanced genetic model of colorectal cancer progression history. Genome Biol. 2019 08 15; 20(1):168. View Abstract
  17. DeviCNV: detection and visualization of exon-level copy number variants in targeted next-generation sequencing data. BMC Bioinformatics. 2018 Oct 16; 19(1):381. View Abstract
  18. A Pan-Cancer Compendium of Genes Deregulated by Somatic Genomic Rearrangement across More Than 1,400 Cases. Cell Rep. 2018 07 10; 24(2):515-527. View Abstract
  19. Immune signatures correlate with L1 retrotransposition in gastrointestinal cancers. Genome Res. 2018 08; 28(8):1136-1146. View Abstract
  20. Large-scale clinical validation of biomarkers for pancreatic cancer using a mass spectrometry-based proteomics approach. Oncotarget. 2017 Jun 27; 8(26):42761-42771. View Abstract
  21. NGSCheckMate: software for validating sample identity in next-generation sequencing studies within and across data types. Nucleic Acids Res. 2017 Jun 20; 45(11):e103. View Abstract
  22. A Pan-Cancer Proteogenomic Atlas of PI3K/AKT/mTOR Pathway Alterations. Cancer Cell. 2017 06 12; 31(6):820-832.e3. View Abstract
  23. Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network. Science. 2017 04 28; 356(6336). View Abstract
  24. Epigenetic Memory Underlies Cell-Autonomous Heterogeneous Behavior of Hematopoietic Stem Cells. Cell. 2016 11 17; 167(5):1310-1322.e17. View Abstract
  25. The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. PLoS Genet. 2016 10; 12(10):e1006385. View Abstract
  26. Next-generation sequencing-based detection of germline L1-mediated transductions. BMC Genomics. 2016 05 10; 17:342. View Abstract
  27. Resolving rates of mutation in the brain using single-neuron genomics. Elife. 2016 Feb 22; 5. View Abstract
  28. Pericentromeric satellite repeat expansions through RNA-derived DNA intermediates in cancer. Proc Natl Acad Sci U S A. 2015 Dec 08; 112(49):15148-53. View Abstract
  29. Intron retention is a widespread mechanism of tumor-suppressor inactivation. Nat Genet. 2015 Nov; 47(11):1242-8. View Abstract
  30. Somatic mutation in single human neurons tracks developmental and transcriptional history. Science. 2015 Oct 02; 350(6256):94-98. View Abstract
  31. Cell lineage analysis in human brain using endogenous retroelements. Neuron. 2015 Jan 07; 85(1):49-59. View Abstract
  32. Integrated genomic characterization of papillary thyroid carcinoma. Cell. 2014 Oct 23; 159(3):676-90. View Abstract
  33. The somatic genomic landscape of chromophobe renal cell carcinoma. Cancer Cell. 2014 Sep 08; 26(3):319-330. View Abstract
  34. Multiplatform analysis of 12 cancer types reveals molecular classification within and across tissues of origin. Cell. 2014 Aug 14; 158(4):929-944. View Abstract
  35. The somatic genomic landscape of glioblastoma. Cell. 2013 Oct 10; 155(2):462-77. View Abstract
  36. The Cancer Genome Atlas Pan-Cancer analysis project. Nat Genet. 2013 Oct; 45(10):1113-20. View Abstract
  37. Primate genome architecture influences structural variation mechanisms and functional consequences. Proc Natl Acad Sci U S A. 2013 Sep 24; 110(39):15764-9. View Abstract
  38. Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain. Cell. 2012 Oct 26; 151(3):483-96. View Abstract
  39. Comprehensive genomic characterization of squamous cell lung cancers. Nature. 2012 Sep 27; 489(7417):519-25. View Abstract
  40. Comprehensive molecular characterization of human colon and rectal cancer. Nature. 2012 Jul 18; 487(7407):330-7. View Abstract
  41. Landscape of somatic retrotransposition in human cancers. Science. 2012 Aug 24; 337(6097):967-71. View Abstract
  42. Copy number variation detection in whole-genome sequencing data using the Bayesian information criterion. Proc Natl Acad Sci U S A. 2011 Nov 15; 108(46):E1128-36. View Abstract
  43. Integrated genomic analyses of ovarian carcinoma. Nature. 2011 Jun 29; 474(7353):609-15. View Abstract
  44. Prediction of cancer prognosis with the genetic basis of transcriptional variations. Genomics. 2011 Jun; 97(6):350-7. View Abstract
  45. Predicting disease phenotypes based on the molecular networks with condition-responsive correlation. Int J Data Min Bioinform. 2011; 5(2):131-42. View Abstract
  46. Relationships between genetic polymorphisms and transcriptional profiles for outcome prediction in anticancer agent treatment. BMB Rep. 2010 Dec; 43(12):836-41. View Abstract
  47. Prediction of extracellular matrix proteins based on distinctive sequence and domain characteristics. J Comput Biol. 2010 Jan; 17(1):97-105. View Abstract
  48. Pathway level analysis by augmenting activities of transcription factor target genes. IET Syst Biol. 2009 Nov; 3(6):534-42. View Abstract
  49. Analysis of AML genes in dysregulated molecular networks. BMC Bioinformatics. 2009 Sep 17; 10 Suppl 9:S2. View Abstract
  50. Comparative analysis of the JAK/STAT signaling through erythropoietin receptor and thrombopoietin receptor using a systems approach. BMC Bioinformatics. 2009 Jan 30; 10 Suppl 1:S53. View Abstract
  51. Inferring pathway activity toward precise disease classification. PLoS Comput Biol. 2008 Nov; 4(11):e1000217. View Abstract
  52. Network-based classification of breast cancer metastasis. Mol Syst Biol. 2007; 3:140. View Abstract

Contact Eunjung (Alice) Lee