Bioinformatics and Genomics Publications

  • Ting JC, Roberson ED, Currier DG, Pevsner J. Locations and patterns of meiotic recombination in two-generation pedigrees.BMC Med Genet. 2009 Sep 17;10:93. PMID: 19761602
  • Roberson EDO and Pevsner J. Visualization of Shared Genomic Regions and Meiotic Recombination in High-Density SNP Data Plos One, 2009 Aug 21;4:8. PMID: 19696932
  • Scharpf RB, Parmigiani G, Pevsner J, Ruczinski I. Hidden Markov models for the assessment of chromosomal alterations using high-throughput SNP arrays. Ann Appl Stat. 2008 Jun 1;2(2):687-713. PMID: 19609370
  • Pevsner J. Analysis of genomic DNA with the UCSC genome browser. Methods Mol Biol. 2009;537:277-301. PMID: 19378150
  • Miller ND, Nance MA, Wohler ES, Hoover-Fong JE, Lisi E, Thomas GH, Pevsner J. Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function. Am J Med Genet A . 2009 Feb 15;149A(4):669-80. PMID: 19253379
  • Wang W, Carvalho B, Miller ND, Pevsner J, Chakravarti A, Irizarry RA. Estimating genome-wide copy number using allele-specific mixture models. J Comput Biol . 2008 Sep;15(7):857-66. PMID: 18707534
  • Ting JC, Roberson ED, Miller ND, Lysholm-Bernacchi A, Stephan DA, Capone GT, Ruczinski I, Thomas GH, Pevsner J. Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio. Hum Mutat. 2007 Dec;28(12):1225-35. PMID: 17661425
  • Ting JC, Roberson EDO, Currier DG Pevsner J. Locations and patterns of meiotic recombination in two-generation pedigrees BMC Medical Genetics, 2009 Sep;10:93. PMID: 19761602
  • Scharpf RB, Ting JC, Pevsner J, Ruczinski I. SNPchip: R classes and methods for SNP array data. Bioinformatics 2007 Mar 1;23(5):627-8. PMID: 17204461
  • Ting JC, Ye Y, Thomas GH, Ruczinski I, Pevsner J. Analysis and visualization of chromosomal abnormalities in SNP data with SNPscan. BMC Bioinformatics, 2006 Jan;7:25. PMID: 16420694
  • Peri S, Navarro JD, Amanchy R, Kristiansen TZ, Jonnalagadda CK, Surendranath V, Niranjan V, Muthusamy B, Gandhi TK, Gronborg M, Ibarrola N, Deshpande N, Shanker K, Shivashankar HN, Rashmi BP, Ramya MA, Zhao Z, Chandrika KN, Padma N, Harsha HC, Yatish AJ, Kavitha MP, Menezes M, Choudhury DR, Suresh S, Ghosh N, Saravana R, Chandran S, Krishna S, Joy M, Anand SK, Madavan V, Joseph A, Wong GW, Schiemann WP, Constantinescu SN, Huang L, Khosravi-Far R, Steen H, Tewari M, Ghaffari S, Blobe GC, Dang CV, Garcia JG, Pevsner J, Jensen ON, Roepstorff P, Deshpande KS, Chinnaiyan AM, Hamosh A, Chakravarti A, Pandey A. Development of human protein reference database as an initial platform for approaching systems biology in humans. Genome Res. 2003 Oct;13(10):2363-71. PMID: 14525934
  • Colantuoni C, Henry G, Zeger S, Pevsner J. SNOMAD (Standardization and NOrmalization of MicroArray Data): web accessible gene expression data analysis. Bioinformatics, 2002 Nov;18(11):1540-1. PMID: 12424128
  • Colantuoni C, Henry G, Zeger S, Pevsner J. Local mean normalization of microarray element signal intensities across an array surface: quality control and correction of spatically systematic hybridization artifacts. Biotechniques, 2002; 32(6):1316-20. PMID: 12074162
  • Bouton CM, Pevsner J. DRAGON View: Information Visualization for Annotated Microarray Data. Bioinformatics, 2002 Feb;18(2):323-4. PMID: 11847082
  • Bouton CM, and Pevsner J. DRAGON: Database Referencing of Array Genes Online. Bioinformatics, 2000 Nov;16(11):1038-9. PMID: 11159315