Now showing items 1-3 of 3

    • Discovery of high-confidence human protein-coding genes and exons by whole-genome PhyloCSF helps elucidate 118 GWAS loci. 

      Mudge, JM; Jungreis, I; Hunt, T; Gonzalez, JM; Wright, JC; Kay, M; Davidson, C; Fitzgerald, S; Seal, R; Tweedie, S; He, L; Waterhouse, RM; Li, Y; Bruford, E; Choudhary, JS; Frankish, A; Kellis, M (2019-12)
      The most widely appreciated role of DNA is to encode protein, yet the exact portion of the human genome that is translated remains to be ascertained. We previously developed PhyloCSF, a widely used tool to identify ...
    • GENCODE reference annotation for the human and mouse genomes. 

      Frankish, A; Diekhans, M; Ferreira, A-M; Johnson, R; Jungreis, I; Loveland, J; Mudge, JM; Sisu, C; Wright, J; Armstrong, J; Barnes, I; Berry, A; Bignell, A; Carbonell Sala, S; Chrast, J; Cunningham, F; Di Domenico, T; Donaldson, S; Fiddes, IT; García Girón, C; Gonzalez, JM; Grego, T; Hardy, M; Hourlier, T; Hunt, T; Izuogu, OG; Lagarde, J; Martin, FJ; Martínez, L; Mohanan, S; Muir, P; Navarro, FCP; Parker, A; Pei, B; Pozo, F; Ruffier, M; Schmitt, BM; Stapleton, E; Suner, M-M; Sycheva, I; Uszczynska-Ratajczak, B; Xu, J; Yates, A; Zerbino, D; Zhang, Y; Aken, B; Choudhary, JS; Gerstein, M; Guigó, R; Hubbard, TJP; Kellis, M; Paten, B; Reymond, A; Tress, ML; Flicek, P (2019-01)
      The accurate identification and description of the genes in the human and mouse genomes is a fundamental requirement for high quality analysis of data informing both genome biology and clinical genomics. Over the last 15 ...
    • Improving GENCODE reference gene annotation using a high-stringency proteogenomics workflow. 

      Wright, JC; Mudge, J; Weisser, H; Barzine, MP; Gonzalez, JM; Brazma, A; Choudhary, JS; Harrow, J (2016-06-02)
      Complete annotation of the human genome is indispensable for medical research. The GENCODE consortium strives to provide this, augmenting computational and experimental evidence with manual annotation. The rapidly developing ...