DukeSpace

Browsing by Duke-affiliated Author "Maia, Jessica"

DukeSpace

Browsing by Duke-affiliated Author "Maia, Jessica"

Sort by: Order: Results:

  • The Characterization of Twenty Sequenced Human Genomes
    Pelak, Kimberly; Shianna, Kevin; Ge, Dr Dongliang; Maia, Jessica; Zhu, Dr Mingfu; Smith, Jason P.; Cirulli, Liz; Fellay, Dr Jacques; Dickson, Sam; Gumbs, Curtis; Heinzen, Erin L.; Need, Anna; Ruzzo, Elizabeth K.; Singh, Dr A; Campbell, Christopher; Hong, Linda; Lornsen, Katharina A.; McKenzie, Alexander; Goldstein, David (PUBLIC LIBRARY SCIENCE, 2010)
    We present the analysis of twenty human genomes to evaluate the prospects for identifying rare functional variants that contribute to a phenotype of interest. We sequenced at high coverage ten "case" genomes from individuals ...
  • Host Determinants of HIV-1 Control in African Americans
    Pelak, Kimberly; Goldstein, David; Walley, Nicole; Fellay, Dr Jacques; Ge, Dr Dongliang; Shianna, Kevin; Gumbs, Curtis; Maia, Jessica; Cronin, Ken (UNIV CHICAGO PRESS, 2010)
    We performed a whole-genome association study of human immunodeficiency virus type 1 (HIV-1) set point among a cohort of African Americans (n = 515), and an intronic single-nucleotide polymorphism (SNP) in the HLA-B gene ...
  • Screening the human exome: a comparison of whole genome and whole transcriptome sequencing
    Cirulli, Liz; Singh, Dr A; Shianna, Kevin; Ge, Dr Dongliang; Smith, Jason P.; Maia, Jessica; Heinzen, Erin L.; Goldstein, David (BIOMED CENTRAL LTD, 2010)
    Background: There is considerable interest in the development of methods to efficiently identify all coding variants present in large sample sets of humans. There are three approaches possible: whole-genome sequencing, ...
  • Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene
    Cirulli, Liz; Ge, Dr Dongliang; Shianna, Kevin; Smith, Jason P.; Maia, Jessica; Gumbs, Curtis; Goldstein, David (PUBLIC LIBRARY SCIENCE, 2010)
    Although more than 2,400 genes have been shown to contain variants that cause Mendelian disease, there are still several thousand such diseases yet to be molecularly defined. The ability of new whole-genome sequencing ...