The deep genome project
Lloyd, K.C. Kent; Adams, David J.; Baynam, Gareth; Beaudet, Arthur L.; Bosch, Fatima; Boycott, Kym M.; Braun, Robert E.; Caulfield, Mark; Cohn, Ronald; Dickinson, Mary E.; Dobbie, Michael S.; Flenniken, Ann M.; Flicek, Paul; Galande, Sanjeev; Gao, Xiang; Grobler, Anne; Heaney, Jason D.; Herault, Yann; Hrabe de Angelis, Martin; Lupski, James R.; Lyonnet, Stanislas; Mallon, Ann-Marie; Mammano, Fabio; MacRae, Calum A.; McInnes, Roderick; McKerlie, Colin; Meehan, Terrence F.; Murray, Stephen A.; Nutter, Lauryl M.J.; Obata, Yuichi; Parkinson, Helen; Pepper, Michael Sean; Sedlacek, Radislav; Seong, Je Kyung; Shiroishi, Toshihiko; Smedley, Damian; Tocchini-Valentini, Glauco; Valle, David; Leo Wang, Chi-Kuang; Wells, Sara; White, Jacqueline; Wurst, Wolfgang; Xu, Ying; Brown, Steve D.M.
Date:
2020-02-03
Abstract:
In vivo research is critical to the functional dissection of
multi-organ systems and whole organism physiology, and
the laboratory mouse remains a quintessential animal model
for studying mammalian, especially human, pathobiology.
Enabled by technological innovations in genome sequencing,
mutagenesis and genome editing, phenotype analyses, and
bioinformatics, in vivo analysis of gene function and dysfunction
in the mouse has delivered new understanding of the
mechanisms of disease and accelerated medical advances.
However, many significant hurdles have limited the elucidation
of mechanisms underlying both rare and complex,
multifactorial diseases, leaving significant gaps in our scientific
knowledge. Future progress in developing a functionally
annotated genome map depends upon studies in model organisms,
not least the mouse. Further, recent advances in
genetic manipulation and in vivo, in vitro, and in silico phenotyping
technologies in the mouse make annotation of the
vast majority of functional elements within the mammalian
genome feasible. The implementation of a Deep Genome
Project—to deliver the functional biological annotation of all human orthologous genomic elements in mice—is an essential
and executable strategy to transform our understanding
of genetic and genomic variation in human health and disease
that will catalyze delivery of the promised benefits of
genomic medicine to children and adults around the world.