DNA Sequencing


News: The PCPGM High Throughput Sequencing Facility has recently added two Illumina Genome Analyzers, and we are happy to make the Solexa sequencing technology available to our clients. Please contact us about how projects may be developed to take advantage of this next generation sequencing capability.

The Sequencing Group currently supports two sequencing platforms: ABI 3730xl Analyzers for fluorescence-based DNA sequencing and cycle sequencing with di-deoxynucleotide terminator chemistry, and Illumina Genome Analyzers , employing the Solexa sequencing technology.

The DNA Sequencing Group at the Partners HealthCare Center for Personalized Genetic Medicine has a strong history of producing high quality, dependable and informative results for collaborators and clients. We participated in the Human Genome Project, building the STS-Based BAC map for Human Chromosome 12 (1), and providing Chromosome 12 tiling path clones to the Baylor Human Genome Sequencing Center for sequencing(2). We sequenced 113 BACs for the Mouse Genome Project, contributing 24 megabases of finished mouse sequence to the published Mouse Genome(3). We have provided draft sequences for unique strains of several bacterial genomes, including Pseudomonas aeruginosa(4), and Vibrio cholerae(5). More recently, we have participated in identifying mutations linked to numerous diseases, either in collaborations(6) or by providing client laboratories with full service resequencing and analysis(7).


  1. Montgomery KT, Lee E, Miller A, Lau S, Shim C, Decker J, Chiu D, Emerling S, Sekhon M, Kim R, Lenz J, Han J, Ioshikhes I, Renault B, Marondel I, Yoon S-J K, Song K, Murty VVVS, Scherer S, Yonescu R, Kirsch IR, Ried T, McPherson J, Gibbs R, Kucherlapati R. A high-resolution map of human chromosome 12. Nature 2001;409:945-946.
  2. Scherer, S., R. Kucherlapati, K. Montgomery, L. Li, Nelson D, Kucherlapati R, Weinstock G, Gibbs RA et al.; Baylor College of Medicine Human Genome Sequencing Center Sequence Production Team. The finished DNA sequence of human chromosome 12. Nature 2006; 440:346-351.
  3. Waterston RH, Lindblad-Toh K, Birney E, Rogers J, Abril JF, Agarwal P, Agarwala R, et al.; Mouse Genome Sequencing Consortium. Initial sequencing and comparitive analysis of the mouse genome. Nature 2002; 420:520-562.
  4. Lee DG, Urbach JM, Wu G, Liberati NT, Feinbaum RL, Miyata S, Diggins LT, He J, Saucier M, Deziel E, Friedman L, Li L, Grills G, Montgomery K, Kucherlapati R, Rahme LG, Ausubel FM. Genomic analysis reveals that Pseudomonas aeruginosa virulence is combinatrorial. Genome Biol. 2006;7(10):R90.
  5. Dziejman M, Serruto D, Tam VC, Sturtevant D, Diraphat P, Faruque SM, Rahman MH, Heidelberg JF, Decker J, Li L, Montgomery KT, Grills G, Kucherlapati R, Mekalanos JJ. Genomic characterization of non-O1, non-O139 Vibrio cholerae reveals genes for a type III secretion system. Proc Natl Acad Sci U S A. 2005 Mar 1;102(9):3465-70. Epub 2005 Feb 22
  6. Roberts, AE, Araki T, Swanson KD, Montgomery, KT, Schiripo TA, Joshi VA, Li L, Yassin Y, Tamburino AM, Neel BG, Kucherlapati R. Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat Genet. 2007 Jan;39(1):70-4.
  7. Siepka SM, Yoo S-H, Park J, Song W, Kumar V, Hu Y, Lee C, Takahashi JS. Circadian Mutant Overtime Reveals F-box Protein FBXL3 Regulation of Cryptochrome and Period Gene Expression. Cell. 2007; 129:1011-1023.