Areas of Interest
The primary purpose of sequencing genomes is to identify the underlying genetic variation between individuals and to explore what role those changes have on human phenotypes. Our research laboratory develops and implements methods to precisely identify and resolve different types of genomic variation. Our goal is to integrate this information with other forms of biologically and medically relevant data to improve our overall understanding of human health and disease. We have may ongoing projects in these areas, including the study of complex structural genomic rearrangements and the impact of genetic variation on active protein translation. We are also exploring the extent and relevance of somatic genetic mosaicism in the brains of neurotypical and schizophrenic brain regions.
Published Articles or Reviews
SY Chun, CM Rodriguez, PK Todd, RE Mills. SPECtre: a spectral coherence-based classifier of actively translated transcripts from ribosome profiling sequence data. BMC Bioinformatics, 2016 Nov 25;17(1):482 PMC in progress
Zhao X, Emery SB, Myers B, Kidd JM, Mills RE. Resolving complex structural genomic rearrangements using a randomized approach. Genome Biol, 2016, 17(1):126 PMC4901421
Jorge DM, Mills RE, Lauring AS. CodonShuffle: A tool for generating and analyzing synonymously mutated sequences. Virus Evolution, 2015, 1(1): vev012
1000 Genomes Project Consortium. A global reference for human genetic variation. Nature. 2015 Oct 1;526(7571):68-74 PMC4750478
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, Kon Y, Lameijer EW, McCarthy S, Flicek P, Gibbs RA, Marth G, Menelaou A, Muzny DM, Neslon BJ, Noor A, Parrish NF, Quitadamo A, Raeder B, Schadt E, 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, The 1000 Genomes Project Consortium, Mills RE*, Gerstein MB, Bashir A, Stegle O, Devine SE, Lee C, Eichler EE, Korbel JO. An integrated map of structural variation 2,504 human genomes. Nature. 2015 Oct 1;526(7571):75-81. (* co-senior author) PMC4617611
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. PMC4227756
Todd PK, Oh S, Krans A, He F, Sellier S, Frazer M, Renoux AJ, Chen KC, Scaglione KM, Basrur V, Elenitoba-Johnson K, Vonsattel JP, Louis ED, Sutton MA, Taylor JP, Mills RE, Charlet-Bergurand N, Paulson HL. CGG repeat associated translation mediates neurodegeneration in Fragile X-assocated tremor ataxia syndrome. Neuron, 2013 May 8;78(3):440-55 PMC3831531
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. PMC3106316
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, Stütz 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. PMC3077050