Users upload a patient's
whole genome or exome
sequence via a web - based interface, and the
sequence is analyzed and filtered using various computational tools and
databases of disease - causing mutations.
We have generated rich genomic datasets for the scientific community, including an expansive atlas of genetic associations with metabolites,
whole -
genome sequence and phenotype data for population cohorts in the UK10K project, as well as bioinformatic resources to facilitate the retrieval of information, including a metabolite network, a
database of genotype - metabolite associations with our colleagues at the HelmHoltz institute, and a
genome browser of UK10K association results.
An integrated computational pipeline and
database to support
whole -
genome sequence annotation C.J. Mungall, S. Misra, B.P. Berman, J. Carlson, E. Frise, N. Harris, B. Marshall, S. Shu, J.S. Kaminker, S.E. Prochnik, C.D. Smith, E. Smith, J.L. Tupy, C. Wiel, G.M. Rubin and S.E. Lewis Genome Biology (2002) 3 (12): research0081.1 - 0081.11 Download entire paper in pdf
genome sequence annotation C.J. Mungall, S. Misra, B.P. Berman, J. Carlson, E. Frise, N. Harris, B. Marshall, S. Shu, J.S. Kaminker, S.E. Prochnik, C.D. Smith, E. Smith, J.L. Tupy, C. Wiel, G.M. Rubin and S.E. Lewis
Genome Biology (2002) 3 (12): research0081.1 - 0081.11 Download entire paper in pdf
Genome Biology (2002) 3 (12): research0081.1 - 0081.11 Download entire paper in pdf format