Publications
2025
- Wang S, Bae M, Wang J, Zhao B, Nguyen K, Mallett S, Switzenberg JA, Losh SJ, Sexton CE, Miao B, Dong S, Zeng X, Wang Z, McDonald TL, Mumm C, Gadde RK, Tariq AM, Chen Z, Feng WC, Burn A, Park J, Chu C, Shen H, Wang T, Urban AE, Zhu X, Li H, Burns KH, Chun HE, Park PJ, SMaHT MEI Working Group, Boyle AP, Mills RE, Zhou W, Lee EA. Multi-platform framework for mapping somatic retrotransposition in human tissues. bioRxiv 2025 Oct 7, N/A
- Logsdon GA, Ebert P, Audano PA, Loftus M, Porubsky D, Ebler J, Yilmaz F, Hallast P, Prodanov T, Yoo D, Paisie CA, Harvey WT, Zhao X, Martino GV, Henglin M, Munson KM, Rabbani K, Chin CS, Gu B, Ashraf H, Scholz S, Austine-Orimoloye O, Balachandran P, Bonder MJ, Cheng H, Chong Z, Crabtree J, Gerstein M, Guethlein LA, Hasenfeld P, Hickey G, Hoekzema K, Hunt SE, Jensen M, Jiang Y, Koren S, Kwon Y, Li C, Li H, Li J, Norman PJ, Oshima KK, Paten B, Phillippy AM, Pollock NR, Rausch T, Rautiainen M, Song Y, Soylev A, Sulovari A, Surapaneni L, Tsapalou V, Zhou W, Zhou Y, Zhu Q, Zody MC, Mills RE, Devine SE, Shi X, Talkowski ME, Chaisson MJP, Dilthey AT, Konkel MK, Korbel JO, Lee C, Beck CR, Eichler EE, Marschall T. Complex genetic variation in nearly complete human genomes. Nature 2025 Aug, 644(8076), 430-441
- Smith JD, Bhangale AD, Gu W, Brummel C, Gensterblum-Miller E, McLean S, Harms PW, Harms KL, Bichakjian CK, Spector ME, Mills RE, Brenner JC. Genomic Signatures of Poor Prognosis in Merkel Cell Carcinoma: A Single-Institution Prospective Study. Mol Cancer Res 2025 Nov 3, 23(11), 923-935
- Coorens THH, Oh JW, Choi YA, Lim NS, Zhao B, Voshall A, Abyzov A, Antonacci-Fulton L, Aparicio S, Ardlie KG, Bell TJ, Bennett JT, Bernstein BE, Blanchard TG, Boyle AP, Buenrostro JD, Burns KH, Chen F, Chen R, Choudhury S, Doddapaneni HV, Eichler EE, Evrony GD, Faith MA, Fazzio TG, Fulton RS, Garber M, Gehlenborg N, Germer S, Getz G, Gibbs RA, Hernandez RG, Jin F, Korbel JO, Landau DA, Lawson HA, Lennon NJ, Li H, Li Y, Loh PR, Marth G, McConnell MJ, Mills RE, Montgomery SB, Natarajan P, Park PJ, Satija R, Sedlazeck FJ, Shao DD, Shen H, Stergachis AB, Underhill HR, Urban AE, VonDran MW, Walsh CA, Wang T, Wu TP, Zong C, Lee EA, Vaccarino FM, Somatic Mosaicism across Human Tissues Network. The Somatic Mosaicism across Human Tissues Network. Nature 2025 Jul, 643(8070), 47-59
- Ho SS, Mills RE. Domain-specific embeddings uncover latent genetics knowledge. bioRxiv 2025 Mar 19, N/A
- Zhou W, Mumm C, Gan Y, Switzenberg JA, Wang J, De Oliveira P, Kathuria K, Losh SJ, Bessell B, McDonald TL, McConnell MJ, Boyle AP, Mills RE. A personalized multi-platform assessment of somatic mosaicism in the human frontal cortex. bioRxiv 2025 Oct 11, N/A
2024
- Brinkmeier ML, George AS, Cheung LYM, Mills RE, Melamed P, Camper SA. Long Noncoding RNAs Expressed in Mouse Pituitary Development and Mature Hormone-Producing Cells. Endocrinology 2024 Oct 30, 165(12), N/A
- Zhou W, Karan KR, Gu W, Klein HU, Sturm G, De Jager PL, Bennett DA, Hirano M, Picard M, Mills RE. Somatic nuclear mitochondrial DNA insertions are prevalent in the human brain and accumulate over time in fibroblasts. PLoS Biol 2024 Aug, 22(8), e3002723
- Sun C, Kathuria K, Emery SB, Kim B, Burbulis IE, Shin JH, Brain Somatic Mosaicism Network, Weinberger DR, Moran JV, Kidd JM, Mills RE, McConnell MJ. Mapping recurrent mosaic copy number variation in human neurons. Nat Commun 2024 May 17, 15(1), 4220
2023
- Garrison MA, Jang Y, Bae T, Cherskov A, Emery SB, Fasching L, Jones A, Moldovan JB, Molitor C, Pochareddy S, Peters MA, Shin JH, Wang Y, Yang X, Akbarian S, Chess A, Gage FH, Gleeson JG, Kidd JM, McConnell M, Mills RE, Moran JV, Park PJ, Sestan N, Urban AE, Vaccarino FM, Walsh CA, Weinberger DR, Wheelan SJ, Abyzov A, BSMN Consortium. Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases. Sci Data 2023 Nov 20, 10(1), 813
- Anderson FM, Visser ND, Amses KR, Hodgins-Davis A, Weber AM, Metzner KM, McFadden MJ, Mills RE, O'Meara MJ, James TY, O'Meara TR. Candida albicans selection for human commensalism results in substantial within-host diversity without decreasing fitness for invasive disease. PLoS Biol 2023 May, 21(5), e3001822
- Sun C, Kathuria K, Emery SB, Kim B, Burbulis IE, Shin JH, Brain Somatic Mosaicism Network, Weinberger DR, Moran JV, Kidd JM, Mills RE, McConnell MJ. Mapping the Complex Genetic Landscape of Human Neurons. bioRxiv 2023 Mar 7, N/A
- Chung C, Yang X, Bae T, Vong KI, Mittal S, Donkels C, Westley Phillips H, Li Z, Marsh APL, Breuss MW, Ball LL, Garcia CAB, George RD, Gu J, Xu M, Barrows C, James KN, Stanley V, Nidhiry AS, Khoury S, Howe G, Riley E, Xu X, Copeland B, Wang Y, Kim SH, Kang HC, Schulze-Bonhage A, Haas CA, Urbach H, Prinz M, Limbrick DD Jr, Gurnett CA, Smyth MD, Sattar S, Nespeca M, Gonda DD, Imai K, Takahashi Y, Chen HH, Tsai JW, Conti V, Guerrini R, Devinsky O, Silva WA Jr, Machado HR, Mathern GW, Abyzov A, Baldassari S, Baulac S, Gleeson JG, Focal Cortical Dysplasia Neurogenetics Consortium, Brain Somatic Mosaicism Network. Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development. Nat Genet 2023 Feb, 55(2), 209-220
2022
- Gu W, Bhangale A, Heft Neal ME, Smith JD, Brummel C, McHugh JB, Spector ME, Mills RE, Brenner JC. Analysis of Human Papilloma Virus Content and Integration in Mucoepidermoid Carcinoma. Viruses 2022 Oct 26, 14(11), N/A
- Byrska-Bishop M, Evani US, Zhao X, Basile AO, Abel HJ, Regier AA, Corvelo A, Clarke WE, Musunuri R, Nagulapalli K, Fairley S, Runnels A, Winterkorn L, Lowy E, Paul Flicek, Germer S, Brand H, Hall IM, Talkowski ME, Narzisi G, Zody MC, Human Genome Structural Variation Consortium. High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios. Cell 2022 Sep 1, 185(18), 3426-3440.e19
- Bae T, Fasching L, Wang Y, Shin JH, Suvakov M, Jang Y, Norton S, Dias C, Mariani J, Jourdon A, Wu F, Panda A, Pattni R, Chahine Y, Yeh R, Roberts RC, Huttner A, Kleinman JE, Hyde TM, Straub RE, Walsh CA, Urban AE, Leckman JF, Weinberger DR, Vaccarino FM, Abyzov A, Brain Somatic Mosaicism Network section sign. Analysis of somatic mutations in 131 human brains reveals aging- associated hypermutability. Science 2022 Jul 29, 377(6605), 511-517
- Breuss MW, Yang X, Schlachetzki JCM, Antaki D, Lana AJ, Xu X, Chung C, Chai G, Stanley V, Song Q, Newmeyer TF, Nguyen A, O'Brien S, Hoeksema MA, Cao B, Nott A, McEvoy-Venneri J, Pasillas MP, Barton ST, Copeland BR, Nahas S, Van Der Kraan L, Ding Y, Glass CK, Gleeson JG, NIMH Brain Somatic Mosaicism Network. Somatic mosaicism reveals clonal distributions of neocortical development. Nature 2022 Apr, 604(7907), 689-696
- Cao Y, Haring CT, Brummel C, Bhambhani C, Aryal M, Lee C, Heft Neal M, Bhangale A, Gu W, Casper K, Malloy K, Sun Y, Shuman A, Prince ME, Spector ME, Chinn S, Shah J, Schonewolf C, McHugh JB, Mills RE, Tewari M, Worden FP, Swiecicki PL, Mierzwa M, Brenner JC. Early HPV ctDNA Kinetics and Imaging Biomarkers Predict Therapeutic Response in p16+ Oropharyngeal Squamous Cell Carcinoma. Clin Cancer Res 2022 Jan 15, 28(2), 350-359
- Lin J, Yang X, Kosters W, Xu T, Jia Y, Wang S, Zhu Q, Ryan M, Guo L, Zhang C, Lee C, Devine SE, Eichler EE, Ye K, Human Genome Structural Variation Consortium. Mako: A Graph-based Pattern Growth Approach to Detect Complex Structural Variants. Genomics Proteomics Bioinformatics 2022 Feb, 20(1), 205-218
2021
- Bao Y, Wadden J, Erb-Downward JR, Ranjan P, Zhou W, McDonald TL, Mills RE, Boyle AP, Dickson RP, Blaauw D, Welch JD. SquiggleNet: real-time, direct classification of nanopore signals. Genome Biol 2021 Oct 27, 22(1), 298
- Pinatti LM, Gu W, Wang Y, Elhossiny A, Bhangale AD, Brummel CV, Carey TE, Mills RE, Brenner JC. SearcHPV: A novel approach to identify and assemble human papillomavirus- host genomic integration events in cancer. Cancer 2021 Oct 1, 127(19), 3531-3540
- McDonald TL, Zhou W, Castro CP, Mumm C, Switzenberg JA, Mills RE, Boyle AP. Cas9 targeted enrichment of mobile elements using nanopore sequencing. Nat Commun 2021 Jun 11, 12(1), 3586
- Zhao X, Collins RL, Lee WP, Weber AM, Jun Y, Zhu Q, Weisburd B, Huang Y, Audano PA, Wang H, Walker M, Lowther C, Fu J, Gerstein MB, Devine SE, Marschall T, Korbel JO, Eichler EE, Chaisson MJP, Lee C, Mills RE, Brand H, Talkowski ME, Human Genome Structural Variation Consortium. Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies. Am J Hum Genet 2021 May 6, 108(5), 919-928
- Wang Y, Bae T, Thorpe J, Sherman MA, Jones AG, Cho S, Daily K, Dou Y, Ganz J, Galor A, Lobon I, Pattni R, Rosenbluh C, Tomasi S, Tomasini L, Yang X, Zhou B, Akbarian S, Ball LL, Bizzotto S, Emery SB, Doan R, Fasching L, Jang Y, Juan D, Lizano E, Luquette LJ, Moldovan JB, Narurkar R, Oetjens MT, Rodin RE, Sekar S, Shin JH, Soriano E, Straub RE, Zhou W, Chess A, Gleeson JG, Marques-Bonet T, Park PJ, Peters MA, Pevsner J, Walsh CA, Weinberger DR, Vaccarino FM, Moran JV, Urban AE, Kidd JM, Mills RE, Abyzov A, Brain Somatic Mosaicism Network. Comprehensive identification of somatic nucleotide variants in human brain tissue. Genome Biol 2021 Mar 29, 22(1), 92
- Ebert P, Audano PA, Zhu Q, Rodriguez-Martin B, Porubsky D, Bonder MJ, Sulovari A, Ebler J, Zhou W, Serra Mari R, Yilmaz F, Zhao X, Hsieh P, Lee J, Kumar S, Lin J, Rausch T, Chen Y, Ren J, Santamarina M, Hops W, Ashraf H, Chuang NT, Yang X, Munson KM, Lewis AP, Fairley S, Tallon LJ, Clarke WE, Basile AO, Byrska-Bishop M, Corvelo A, Evani US, Lu TY, Chaisson MJP, Chen J, Li C, Brand H, Wenger AM, Ghareghani M, Harvey WT, Raeder B, Hasenfeld P, Regier AA, Abel HJ, Hall IM, Flicek P, Stegle O, Gerstein MB, Tubio JMC, Mu Z, Li YI, Shi X, Hastie AR, Ye K, Chong Z, Sanders AD, Zody MC, Talkowski ME, Mills RE, Devine SE, Lee C, Korbel JO, Marschall T, Eichler EE. Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Science 2021 Apr 2, 372(6537), N/A
- Oleksyk TK, Wolfsberger WW, Weber AM, Shchubelka K, Oleksyk OT, Levchuk O, Patrus A, Lazar N, Castro-Marquez SO, Hasynets Y, Boldyzhar P, Neymet M, Urbanovych A, Stakhovska V, Malyar K, Chervyakova S, Podoroha O, Kovalchuk N, Rodriguez-Flores JL, Zhou W, Medley S, Battistuzzi F, Liu R, Hou Y, Chen S, Yang H, Yeager M, Dean M, Mills RE, Smolanka V. Genome diversity in Ukraine. Gigascience 2021 Jan 13, 10(1), N/A
- Zhu X, Zhou B, Pattni R, Gleason K, Tan C, Kalinowski A, Sloan S, Fiston-Lavier AS, Mariani J, Petrov D, Barres BA, Duncan L, Abyzov A, Vogel H, Moran JV, Vaccarino FM, Tamminga CA, Levinson DF, Urban AE, Brain Somatic Mosaicism Network. Machine learning reveals bilateral distribution of somatic L1 insertions in human neurons and glia. Nat Neurosci 2021 Feb, 24(2), 186-196
- Rodin RE, Dou Y, Kwon M, Sherman MA, D'Gama AM, Doan RN, Rento LM, Girskis KM, Bohrson CL, Kim SN, Nadig A, Luquette LJ, Gulhan DC, Park PJ, Walsh CA, Brain Somatic Mosaicism Network. The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing. Nat Neurosci 2021 Feb, 24(2), 176-185
2020
- Shi X, Radhakrishnan S, Wen J, Chen JY, Chen J, Lam BA, Mills RE, Stranger BE, Lee C, Setlur SR. Association of CNVs with methylation variation. NPJ Genom Med 2020 Sep 24, 5(1), 41
- Dayama G, Zhou W, Prado-Martinez J, Marques-Bonet T, Mills RE. Characterization of nuclear mitochondrial insertions in the whole genomes of primates. NAR Genom Bioinform 2020 Dec, 2(4), lqaa089
- Shi X, Radhakrishnan S, Wen J, Chen JY, Chen J, Lam BA, Mills RE, Stranger BE, Lee C, Setlur SR. Association of CNVs with methylation variation. NPJ Genom Med 2020, 5, 41
- Zook JM, Hansen NF, Olson ND, Chapman L, Mullikin JC, Xiao C, Sherry S, Koren S, Phillippy AM, Boutros PC, Sahraeian SME, Huang V, Rouette A, Alexander N, Mason CE, Hajirasouliha I, Ricketts C, Lee J, Tearle R, Fiddes IT, Barrio AM, Wala J, Carroll A, Ghaffari N, Rodriguez OL, Bashir A, Jackman S, Farrell JJ, Wenger AM, Alkan C, Soylev A, Schatz MC, Garg S, Church G, Marschall T, Chen K, Fan X, English AC, Rosenfeld JA, Zhou W, Mills RE, Sage JM, Davis JR, Kaiser MD, Oliver JS, Catalano AP, Chaisson MJP, Spies N, Sedlazeck FJ, Salit M. A robust benchmark for detection of germline large deletions and insertions. Nat Biotechnol 2020 Nov, 38(11), 1347-1355
- Shanta O, Noor A, Sebat J, Human Genome Structural Variation Consortium (HGSVC). The effects of common structural variants on 3D chromatin structure. BMC Genomics 2020 Jan 30, 21(1), 95
- Zhou W, Emery SB, Flasch DA, Wang Y, Kwan KY, Kidd JM, Moran JV, Mills RE. Identification and characterization of occult human-specific LINE-1 insertions using long-read sequencing technology. Nucleic Acids Res 2020 Feb 20, 48(3), 1146-1163
- Ho SS, Urban AE, Mills RE. Structural variation in the sequencing era. Nat Rev Genet 2020 Mar, 21(3), 171-189
2019
- Sun C, Li H, Mills RE, Guan Y. Prognostic model for multiple myeloma progression integrating gene expression and clinical features. Gigascience 2019 Dec 1, 8(12), N/A
- Sulovari A, Li R, Audano PA, Porubsky D, Vollger MR, Logsdon GA, Warren WC, Pollen AA, Chaisson MJP, Eichler EE, Human Genome Structural Variation Consortium. Human-specific tandem repeat expansion and differential gene expression during primate evolution. Proc Natl Acad Sci U S A 2019 Nov 12, 116(46), 23243-23253
- Moldovan JB, Wang Y, Shuman S, Mills RE, Moran JV. RNA ligation precedes the retrotransposition of U6/LINE-1 chimeric RNA. Proc Natl Acad Sci U S A 2019 Oct 8, 116(41), 20612-20622
- Rodriguez CM, Chun SY, Mills RE, Todd PK. Translation of upstream open reading frames in a model of neuronal differentiation. BMC Genomics 2019 May 20, 20(1), 391
- Chaisson MJP, Sanders AD, Zhao X, Malhotra A, Porubsky D, Rausch T, Gardner EJ, Rodriguez OL, Guo L, Collins RL, Fan X, Wen J, Handsaker RE, Fairley S, Kronenberg ZN, Kong X, Hormozdiari F, Lee D, Wenger AM, Hastie AR, Antaki D, Anantharaman T, Audano PA, Brand H, Cantsilieris S, Cao H, Cerveira E, Chen C, Chen X, Chin CS, Chong Z, Chuang NT, Lambert CC, Church DM, Clarke L, Farrell A, Flores J, Galeev T, Gorkin DU, Gujral M, Guryev V, Heaton WH, Korlach J, Kumar S, Kwon JY, Lam ET, Lee JE, Lee J, Lee WP, Lee SP, Li S, Marks P, Viaud-Martinez K, Meiers S, Munson KM, Navarro FCP, Nelson BJ, Nodzak C, Noor A, Kyriazopoulou-Panagiotopoulou S, Pang AWC, Qiu Y, Rosanio G, Ryan M, Stutz A, Spierings DCJ, Ward A, Welch AE, Xiao M, Xu W, Zhang C, Zhu Q, Zheng-Bradley X, Lowy E, Yakneen S, McCarroll S, Jun G, Ding L, Koh CL, Ren B, Flicek P, Chen K, Gerstein MB, Kwok PY, Lansdorp PM, Marth GT, Sebat J, Shi X, Bashir A, Ye K, Devine SE, Talkowski ME, Mills RE, Marschall T, Korbel JO, Eichler EE, Lee C. Multi-platform discovery of haplotype-resolved structural variation in human genomes. Nat Commun 2019 Apr 16, 10(1), 1784
- Ferrer-Torres D, Nancarrow DJ, Steinberg H, Wang Z, Kuick R, Weh KM, Mills RE, Ray D, Ray P, Lin J, Chang AC, Reddy RM, Orringer MB, Canto MI, Shaheen NJ, Kresty LA, Chak A, Wang TD, Rubenstein JH, Beer DG. Constitutively Higher Level of GSTT2 in Esophageal Tissues From African Americans Protects Cells Against DNA Damage. Gastroenterology 2019 Apr, 156(5), 1404-1415
2018
- Becker T, Lee WP, Leone J, Zhu Q, Zhang C, Liu S, Sargent J, Shanker K, Mil-Homens A, Cerveira E, Ryan M, Cha J, Navarro FCP, Galeev T, Gerstein M, Mills RE, Shin DG, Lee C, Malhotra A. FusorSV: an algorithm for optimally combining data from multiple structural variation detection methods. Genome Biol 2018 Mar 20, 19(1), 38
Sherman,Marcus,D, Mills,Ryan,E. BAMnostic: an OS-agnostic toolkit for genomic sequence analysis The Journal of Open Source Science 2018 08 09, 3(28), 826
2017
- Hovelson DH, Liu CJ, Wang Y, Kang Q, Henderson J, Gursky A, Brockman S, Ramnath N, Krauss JC, Talpaz M, Kandarpa M, Chugh R, Tuck M, Herman K, Grasso CS, Quist MJ, Feng FY, Haakenson C, Langmore J, Kamberov E, Tesmer T, Husain H, Lonigro RJ, Robinson D, Smith DC, Alva AS, Hussain MH, Chinnaiyan AM, Tewari M, Mills RE, Morgan TM, Tomlins SA. Rapid, ultra low coverage copy number profiling of cell-free DNA as a precision oncology screening strategy. Oncotarget 2017 Oct 27, 8(52), 89848-89866
- Zhao X, Weber AM, Mills RE. A recurrence-based approach for validating structural variation using long-read sequencing technology. Gigascience 2017 Aug 1, 6(8), 1-9
- Gardner EJ, Lam VK, Harris DN, Chuang NT, Scott EC, Pittard WS, Mills RE, Devine SE, 1000 Genomes Project Consortium. The Mobile Element Locator Tool (MELT): population-scale mobile element discovery and biology. Genome Res 2017 Nov, 27(11), 1916-1929
- McConnell MJ, Moran JV, Abyzov A, Akbarian S, Bae T, Cortes-Ciriano I, Erwin JA, Fasching L, Flasch DA, Freed D, Ganz J, Jaffe AE, Kwan KY, Kwon M, Lodato MA, Mills RE, Paquola ACM, Rodin RE, Rosenbluh C, Sestan N, Sherman MA, Shin JH, Song S, Straub RE, Thorpe J, Weinberger DR, Urban AE, Zhou B, Gage FH, Lehner T, Senthil G, Walsh CA, Chess A, Courchesne E, Gleeson JG, Kidd JM, Park PJ, Pevsner J, Vaccarino FM, Brain Somatic Mosaicism Network. Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network. Science 2017 Apr 28, 356(6336), N/A
2016
- Chun SY, Rodriguez CM, Todd PK, Mills RE. SPECtre: a spectral coherence--based classifier of actively translated transcripts from ribosome profiling sequence data. BMC Bioinformatics 2016 Nov 25, 17(1), 482
- Fang Q, George AS, Brinkmeier ML, Mortensen AH, Gergics P, Cheung LY, Daly AZ, Ajmal A, Perez Millan MI, Ozel AB, Kitzman JO, Mills RE, Li JZ, Camper SA. Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era. Endocr Rev 2016 Dec, 37(6), 636-675
- Zhao X, Emery SB, Myers B, Kidd JM, Mills RE. Resolving complex structural genomic rearrangements using a randomized approach. Genome Biol 2016 Jun 10, 17(1), 126
2015
- Jorge DM, Mills RE, Lauring AS. CodonShuffle: a tool for generating and analyzing synonymously mutated sequences. Virus Evol 2015, 1(1), vev012
- Sudmant PH, Rausch T, Gardner EJ, Handsaker RE, Abyzov A, Huddleston J, Zhang Y, Ye K, Jun G, Fritz MH, Konkel MK, Malhotra A, Stutz AM, Shi X, Casale FP, Chen J, Hormozdiari F, Dayama G, Chen K, Malig M, Chaisson MJP, Walter K, Meiers S, Kashin S, Garrison E, Auton A, Lam HYK, Mu XJ, Alkan C, Antaki D, Bae T, Cerveira E, Chines P, Chong Z, Clarke L, Dal E, Ding L, Emery S, Fan X, Gujral M, Kahveci F, Kidd JM, Kong Y, Lameijer EW, McCarthy S, Flicek P, Gibbs RA, Marth G, Mason CE, Menelaou A, Muzny DM, Nelson BJ, Noor A, Parrish NF, Pendleton M, Quitadamo A, Raeder B, Schadt EE, Romanovitch M, Schlattl A, Sebra R, Shabalin AA, Untergasser A, Walker JA, Wang M, Yu F, Zhang C, Zhang J, Zheng-Bradley X, Zhou W, Zichner T, Sebat J, Batzer MA, McCarroll SA, Mills RE, Gerstein MB, Bashir A, Stegle O, Devine SE, Lee C, Eichler EE, Korbel JO, 1000 Genomes Project Consortium. An integrated map of structural variation in 2,504 human genomes. Nature 2015 Oct 1, 526(7571), 75-81
- Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA, Abecasis GR, 1000 Genomes Project Consortium. A global reference for human genetic variation. Nature 2015 Oct 1, 526(7571), 68-74
2014
- Delaneau O, Marchini J, 1000 Genomes Project Consortium, 1000 Genomes Project Consortium. Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel. Nat Commun 2014 Jun 13, 5, 3934
- Dayama G, Emery SB, Kidd JM, Mills RE. The genomic landscape of polymorphic human nuclear mitochondrial insertions. Nucleic Acids Res 2014 Nov 10, 42(20), 12640-9
- Brand H, Pillalamarri V, Collins RL, Eggert S, O'Dushlaine C, Braaten EB, Stone MR, Chambert K, Doty ND, Hanscom C, Rosenfeld JA, Ditmars H, Blais J, Mills R, Lee C, Gusella JF, McCarroll S, Smoller JW, Talkowski ME, Doyle AE. Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders. Am J Hum Genet 2014 Oct 2, 95(4), 454-61
- Colonna V, Ayub Q, Chen Y, Pagani L, Luisi P, Pybus M, Garrison E, Xue Y, Tyler-Smith C, Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA, 1000 Genomes Project Consortium. Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences. Genome Biol 2014 Jun 30, 15(6), R88
- Park H, Kim D, Kim CH, Mills RE, Chang MY, Iskow RC, Ko S, Moon JI, Choi HW, Man Yoo PS, Do JT, Han MJ, Lee EG, Jung JK, Zhang C, Lanza R, Kim KS. Increased genomic integrity of an improved protein-based mouse induced pluripotent stem cell method compared with current viral-induced strategies. Stem Cells Transl Med 2014 May, 3(5), 599-609
- Silva AG, Krepischi AC, Torrezan GT, Capelli LP, Carraro DM, D'Angelo CS, Koiffmann CP, Zatz M, Naslavsky MS, Masotti C, Otto PA, Achatz MI, Mills RE, Lee C, Pearson PL, Rosenberg C. Does germ-line deletion of the PIP gene constitute a widespread risk for cancer? Eur J Hum Genet 2014 Mar, 22(3), 307-9
2013
- Khurana E, Fu Y, Colonna V, Mu XJ, Kang HM, Lappalainen T, Sboner A, Lochovsky L, Chen J, Harmanci A, Das J, Abyzov A, Balasubramanian S, Beal K, Chakravarty D, Challis D, Chen Y, Clarke D, Clarke L, Cunningham F, Evani US, Flicek P, Fragoza R, Garrison E, Gibbs R, Gumus ZH, Herrero J, Kitabayashi N, Kong Y, Lage K, Liluashvili V, Lipkin SM, MacArthur DG, Marth G, Muzny D, Pers TH, Ritchie GRS, Rosenfeld JA, Sisu C, Wei X, Wilson M, Xue Y, Yu F, Dermitzakis ET, Yu H, Rubin MA, Tyler-Smith C, Gerstein M, 1000 Genomes Project Consortium. Integrative annotation of variants from 1092 humans: application to cancer genomics. Science 2013 Oct 4, 342(6154), 1235587
- Abyzov A, Iskow R, Gokcumen O, Radke DW, Balasubramanian S, Pei B, Habegger L, Lee C, Gerstein M, 1000 Genomes Project Consortium. Analysis of variable retroduplications in human populations suggests coupling of retrotransposition to cell division. Genome Res 2013 Dec, 23(12), 2042-52
- Gokcumen O, Tischler V, Tica J, Zhu Q, Iskow RC, Lee E, Fritz MH, Langdon A, Stutz AM, Pavlidis P, Benes V, Mills RE, Park PJ, Lee C, Korbel JO. Primate genome architecture influences structural variation mechanisms and functional consequences. Proc Natl Acad Sci U S A 2013 Sep 24, 110(39), 15764-9
- Chu JH, Rogers A, Ionita-Laza I, Darvishi K, Mills RE, Lee C, Raby BA. Copy number variation genotyping using family information. BMC Bioinformatics 2013 May 9, 14, 157
- Todd PK, Oh SY, Krans A, He F, Sellier C, Frazer M, Renoux AJ, Chen KC, Scaglione KM, Basrur V, Elenitoba-Johnson K, Vonsattel JP, Louis ED, Sutton MA, Taylor JP, Mills RE, Charlet-Berguerand N, Paulson HL. CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome. Neuron 2013 May 8, 78(3), 440-55
- Rogers AJ, Chu JH, Darvishi K, Ionita-Laza I, Lehmann H, Mills R, Lee C, Raby BA. Copy number variation prevalence in known asthma genes and their impact on asthma susceptibility. Clin Exp Allergy 2013 Apr, 43(4), 455-62
- Montgomery SB, Goode DL, Kvikstad E, Albers CA, Zhang ZD, Mu XJ, Ananda G, Howie B, Karczewski KJ, Smith KS, Anaya V, Richardson R, Davis J, MacArthur DG, Sidow A, Duret L, Gerstein M, Makova KD, Marchini J, McVean G, Lunter G, 1000 Genomes Project Consortium. The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes. Genome Res 2013 May, 23(5), 749-61
2012
- Xue Y, Chen Y, Ayub Q, Huang N, Ball EV, Mort M, Phillips AD, Shaw K, Stenson PD, Cooper DN, Tyler-Smith C, 1000 Genomes Project Consortium. Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population- scale resequencing. Am J Hum Genet 2012 Dec 7, 91(6), 1022-32
- Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA, 1000 Genomes Project Consortium. An integrated map of genetic variation from 1,092 human genomes. Nature 2012 Nov 1, 491(7422), 56-65
- Iskow RC, Gokcumen O, Abyzov A, Malukiewicz J, Zhu Q, Sukumar AT, Pai AA, Mills RE, Habegger L, Cusanovich DA, Rubel MA, Perry GH, Gerstein M, Stone AC, Gilad Y, Lee C. Regulatory element copy number differences shape primate expression profiles. Proc Natl Acad Sci U S A 2012 Jul 31, 109(31), 12656-61
- Clarke L, Zheng-Bradley X, Smith R, Kulesha E, Xiao C, Toneva I, Vaughan B, Preuss D, Leinonen R, Shumway M, Sherry S, Flicek P, 1000 Genomes Project Consortium. The 1000 Genomes Project: data management and community access. Nat Methods 2012 Apr 27, 9(5), 459-62
- Chiang C, Jacobsen JC, Ernst C, Hanscom C, Heilbut A, Blumenthal I, Mills RE, Kirby A, Lindgren AM, Rudiger SR, McLaughlan CJ, Bawden CS, Reid SJ, Faull RL, Snell RG, Hall IM, Shen Y, Ohsumi TK, Borowsky ML, Daly MJ, Lee C, Morton CC, MacDonald ME, Gusella JF, Talkowski ME. Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration. Nat Genet 2012 Mar 4, 44(4), 390-7, S1
- MacArthur DG, Balasubramanian S, Frankish A, Huang N, Morris J, Walter K, Jostins L, Habegger L, Pickrell JK, Montgomery SB, Albers CA, Zhang ZD, Conrad DF, Lunter G, Zheng H, Ayub Q, DePristo MA, Banks E, Hu M, Handsaker RE, Rosenfeld JA, Fromer M, Jin M, Mu XJ, Khurana E, Ye K, Kay M, Saunders GI, Suner MM, Hunt T, Barnes IH, Amid C, Carvalho-Silva DR, Bignell AH, Snow C, Yngvadottir B, Bumpstead S, Cooper DN, Xue Y, Romero IG, Wang J, Li Y, Gibbs RA, McCarroll SA, Dermitzakis ET, Pritchard JK, Barrett JC, Harrow J, Hurles ME, Gerstein MB, Tyler-Smith C, 1000 Genomes Project Consortium. A systematic survey of loss-of-function variants in human protein-coding genes. Science 2012 Feb 17, 335(6070), 823-8
- Brown KH, Dobrinski KP, Lee AS, Gokcumen O, Mills RE, Shi X, Chong WW, Chen JY, Yoo P, David S, Peterson SM, Raj T, Choy KW, Stranger BE, Williamson RE, Zon LI, Freeman JL, Lee C. Extensive genetic diversity and substructuring among zebrafish strains revealed through copy number variant analysis. Proc Natl Acad Sci U S A 2012 Jan 10, 109(2), 529-34
2011
- Marth GT, Yu F, Indap AR, Garimella K, Gravel S, Leong WF, Tyler-Smith C, Bainbridge M, Blackwell T, Zheng-Bradley X, Chen Y, Challis D, Clarke L, Ball EV, Cibulskis K, Cooper DN, Fulton B, Hartl C, Koboldt D, Muzny D, Smith R, Sougnez C, Stewart C, Ward A, Yu J, Xue Y, Altshuler D, Bustamante CD, Clark AG, Daly M, DePristo M, Flicek P, Gabriel S, Mardis E, Palotie A, Gibbs R, 1000 Genomes Project. The functional spectrum of low-frequency coding variation. Genome Biol 2011 Sep 14, 12(9), R84
- Gravel S, Henn BM, Gutenkunst RN, Indap AR, Marth GT, Clark AG, Yu F, Gibbs RA, Bustamante CD, 1000 Genomes Project. Demographic history and rare allele sharing among human populations. Proc Natl Acad Sci U S A 2011 Jul 19, 108(29), 11983-8
- Conrad DF, Keebler JE, DePristo MA, Lindsay SJ, Zhang Y, Casals F, Idaghdour Y, Hartl CL, Torroja C, Garimella KV, Zilversmit M, Cartwright R, Rouleau GA, Daly M, Stone EA, Hurles ME, Awadalla P, 1000 Genomes Project. Variation in genome-wide mutation rates within and between human families. Nat Genet 2011 Jun 12, 43(7), 712-4
- Gokcumen O, Babb PL, Iskow RC, Zhu Q, Shi X, Mills RE, Ionita-Laza I, Vallender EJ, Clark AG, Johnson WE, Lee C. Refinement of primate copy number variation hotspots identifies candidate genomic regions evolving under positive selection. Genome Biol 2011, 12(5), R52
- Pinto D, Darvishi K, Shi X, Rajan D, Rigler D, Fitzgerald T, Lionel AC, Thiruvahindrapuram B, Macdonald JR, Mills R, Prasad A, Noonan K, Gribble S, Prigmore E, Donahoe PK, Smith RS, Park JH, Hurles ME, Carter NP, Lee C, Scherer SW, Feuk L. Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants. Nat Biotechnol 2011 May 8, 29(6), 512-20
- Mills RE, Pittard WS, Mullaney JM, Farooq U, Creasy TH, Mahurkar AA, Kemeza DM, Strassler DS, Ponting CP, Webber C, Devine SE. Natural genetic variation caused by small insertions and deletions in the human genome. Genome Res 2011 Jun, 21(6), 830-9
- Mills RE, Walter K, Stewart C, Handsaker RE, Chen K, Alkan C, Abyzov A, Yoon SC, Ye K, Cheetham RK, Chinwalla A, Conrad DF, Fu Y, Grubert F, Hajirasouliha I, Hormozdiari F, Iakoucheva LM, Iqbal Z, Kang S, Kidd JM, Konkel MK, Korn J, Khurana E, Kural D, Lam HY, Leng J, Li R, Li Y, Lin CY, Luo R, Mu XJ, Nemesh J, Peckham HE, Rausch T, Scally A, Shi X, Stromberg MP, Stutz AM, Urban AE, Walker JA, Wu J, Zhang Y, Zhang ZD, Batzer MA, Ding L, Marth GT, McVean G, Sebat J, Snyder M, Wang J, Ye K, Eichler EE, Gerstein MB, Hurles ME, Lee C, McCarroll SA, Korbel JO, 1000 Genomes Project. Mapping copy number variation by population-scale genome sequencing. Nature 2011 Feb 3, 470(7332), 59-65
2010
- Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M, Tsalenko A, Sampas N, Bruhn L, Shendure J, Eichler EE, 1000 Genomes Project. Diversity of human copy number variation and multicopy genes. Science 2010 Oct 29, 330(6004), 641-6
- Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA, 1000 Genomes Project Consortium. A map of human genome variation from population-scale sequencing. Nature 2010 Oct 28, 467(7319), 1061-73
- Mullaney JM, Mills RE, Pittard WS, Devine SE. Small insertions and deletions (INDELs) in human genomes. Hum Mol Genet 2010 Oct 15, 19(R2), R131-6
- Iskow RC, McCabe MT, Mills RE, Torene S, Pittard WS, Neuwald AF, Van Meir EG, Vertino PM, Devine SE. Natural mutagenesis of human genomes by endogenous retrotransposons. Cell 2010 Jun 25, 141(7), 1253-61
- Park H, Kim JI, Ju YS, Gokcumen O, Mills RE, Kim S, Lee S, Suh D, Hong D, Kang HP, Yoo YJ, Shin JY, Kim HJ, Yavartanoo M, Chang YW, Ha JS, Chong W, Hwang GR, Darvishi K, Kim H, Yang SJ, Yang KS, Kim H, Hurles ME, Scherer SW, Carter NP, Tyler-Smith C, Lee C, Seo JS. Discovery of common Asian copy number variants using integrated high- resolution array CGH and massively parallel DNA sequencing. Nat Genet 2010 May, 42(5), 400-5
- Lange A, McLane LM, Mills RE, Devine SE, Corbett AH. Expanding the definition of the classical bipartite nuclear localization signal. Traffic 2010 Mar, 11(3), 311-23
2009
2008
- Bennett EA, Keller H, Mills RE, Schmidt S, Moran JV, Weichenrieder O, Devine SE. Active Alu retrotransposons in the human genome. Genome Res 2008 Dec, 18(12), 1875-83
- Lange A, Mills RE, Devine SE, Corbett AH. A PY-NLS nuclear targeting signal is required for nuclear localization and function of the Saccharomyces cerevisiae mRNA-binding protein Hrp1. J Biol Chem 2008 May 9, 283(19), 12926-34
2007
- Mills RE, Bennett EA, Iskow RC, Devine SE. Which transposable elements are active in the human genome? Trends Genet 2007 Apr, 23(4), 183-91
- Lange A, Mills RE, Lange CJ, Stewart M, Devine SE, Corbett AH. Classical nuclear localization signals: definition, function, and interaction with importin alpha. J Biol Chem 2007 Feb 23, 282(8), 5101-5
2006
- Mills RE, Luttig CT, Larkins CE, Beauchamp A, Tsui C, Pittard WS, Devine SE. An initial map of insertion and deletion (INDEL) variation in the human genome. Genome Res 2006 Sep, 16(9), 1182-90
- Mills RE, Bennett EA, Iskow RC, Luttig CT, Tsui C, Pittard WS, Devine SE. Recently mobilized transposons in the human and chimpanzee genomes. Am J Hum Genet 2006 Apr, 78(4), 671-9
2004
2003
- Borodovsky M, Lomsadze A, Ivanov N, Mills R. Eukaryotic gene prediction using GeneMark.hmm. Curr Protoc Bioinformatics 2003 May, Chapter 4, Unit4.6
- Borodovsky M, Mills R, Besemer J, Lomsadze A. Prokaryotic gene prediction using GeneMark and GeneMark.hmm. Curr Protoc Bioinformatics 2003 May, Chapter 4, Unit4.5
- Mills R, Rozanov M, Lomsadze A, Tatusova T, Borodovsky M. Improving gene annotation of complete viral genomes. Nucleic Acids Res 2003 Dec 1, 31(23), 7041-55
- Perelygina L, Zhu L, Zurkuhlen H, Mills R, Borodovsky M, Hilliard JK. Complete sequence and comparative analysis of the genome of herpes B virus (Cercopithecine herpesvirus 1) from a rhesus monkey. J Virol 2003 Jun, 77(11), 6167-77