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
Identification and Genotyping of Transposable Element Insertions From Genome Sequencing Data. Curr Protoc Hum Genet. 2020 09; 107(1):e102. View Abstract
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
Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition. Nat Genet. 2020 03; 52(3):306-319. View Abstract
Global impact of somatic structural variation on the DNA methylome of human cancers. Genome Biol. 2019 10 15; 20(1):209. View Abstract
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. N Engl J Med. 2019 10 24; 381(17):1644-1652. View Abstract
An enhanced genetic model of colorectal cancer progression history. Genome Biol. 2019 08 15; 20(1):168. View Abstract
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
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
Immune signatures correlate with L1 retrotransposition in gastrointestinal cancers. Genome Res. 2018 08; 28(8):1136-1146. View Abstract
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
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
A Pan-Cancer Proteogenomic Atlas of PI3K/AKT/mTOR Pathway Alterations. Cancer Cell. 2017 06 12; 31(6):820-832.e3. View Abstract
Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network. Science. 2017 04 28; 356(6336). View Abstract
The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. PLoS Genet. 2016 10; 12(10):e1006385. View Abstract
Resolving rates of mutation in the brain using single-neuron genomics. Elife. 2016 Feb 22; 5. View Abstract
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
Intron retention is a widespread mechanism of tumor-suppressor inactivation. Nat Genet. 2015 Nov; 47(11):1242-8. View Abstract
Somatic mutation in single human neurons tracks developmental and transcriptional history. Science. 2015 Oct 02; 350(6256):94-98. View Abstract
Cell lineage analysis in human brain using endogenous retroelements. Neuron. 2015 Jan 07; 85(1):49-59. View Abstract
Integrated genomic characterization of papillary thyroid carcinoma. Cell. 2014 Oct 23; 159(3):676-90. View Abstract
The somatic genomic landscape of chromophobe renal cell carcinoma. Cancer Cell. 2014 Sep 08; 26(3):319-330. View Abstract
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
The somatic genomic landscape of glioblastoma. Cell. 2013 Oct 10; 155(2):462-77. View Abstract
The Cancer Genome Atlas Pan-Cancer analysis project. Nat Genet. 2013 Oct; 45(10):1113-20. View Abstract
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
Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain. Cell. 2012 Oct 26; 151(3):483-96. View Abstract
Comprehensive molecular characterization of human colon and rectal cancer. Nature. 2012 Jul 18; 487(7407):330-7. View Abstract
Landscape of somatic retrotransposition in human cancers. Science. 2012 Aug 24; 337(6097):967-71. View Abstract
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
Integrated genomic analyses of ovarian carcinoma. Nature. 2011 Jun 29; 474(7353):609-15. View Abstract
Prediction of cancer prognosis with the genetic basis of transcriptional variations. Genomics. 2011 Jun; 97(6):350-7. View Abstract
Predicting disease phenotypes based on the molecular networks with condition-responsive correlation. Int J Data Min Bioinform. 2011; 5(2):131-42. View Abstract
Relationships between genetic polymorphisms and transcriptional profiles for outcome prediction in anticancer agent treatment. BMB Rep. 2010 Dec; 43(12):836-41. View Abstract
Prediction of extracellular matrix proteins based on distinctive sequence and domain characteristics. J Comput Biol. 2010 Jan; 17(1):97-105. View Abstract
Pathway level analysis by augmenting activities of transcription factor target genes. IET Syst Biol. 2009 Nov; 3(6):534-42. View Abstract
Analysis of AML genes in dysregulated molecular networks. BMC Bioinformatics. 2009 Sep 17; 10 Suppl 9:S2. View Abstract
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