RT Journal Article
SR Electronic
T1 The Monarch Initiative: An integrative data and analytic platform connecting phenotypes to genotypes across species
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 055756
DO 10.1101/055756
A1 Christopher J Mungall
A1 Julie A McMurry
A1 Sebastian Köhler
A1 James P. Balhoff
A1 Charles Borromeo
A1 Matthew Brush
A1 Seth Carbon
A1 Tom Conlin
A1 Nathan Dunn
A1 Mark Engelstad
A1 Erin Foster
A1 JP Gourdine
A1 Julius O.B. Jacobsen
A1 Daniel Keith
A1 Bryan Laraway
A1 Suzanna E. Lewis
A1 Jeremy Nguyen Xuan
A1 Kent Shefchek
A1 Nicole Vasilevsky
A1 Zhou Yuan
A1 Nicole Washington
A1 Harry Hochheiser
A1 Tudor Groza
A1 Damian Smedley
A1 Peter N. Robinson
A1 Melissa A Haendel
YR 2016
UL http://biorxiv.org/content/early/2016/11/03/055756.abstract
AB The principles of genetics apply across the whole tree of life: on a cellular level, we share mechanisms with species from which we diverged millions or even billions of years ago. We can exploit this common ancestry at the level of sequences, but also in terms of observable outcomes (phenotypes), to learn more about health and disease for humans and all other species. Applying the range of available knowledge to solve challenging disease problems requires unified data relating genomics, phenotypes, and disease; it also requires computational tools that leverage these multimodal data to inform interpretations by geneticists and to suggest experiments. However, the distribution and heterogeneity of databases is a major impediment: databases tend to focus either on a single data type across species, or on single species across data types. Although each database provides rich, high-quality information, no single one provides unified data that is comprehensive across species, biological scales, and data types. Without a big-picture view of the data, many questions in genetics are difficult or impossible to answer. The Monarch Initiative (https://monarchinitiative.org) is an international consortium dedicated to providing computational tools that leverage a computational representation of phenotypic data for genotype-phenotype analysis, genomic diagnostics, and precision medicine on the basis of a large-scale platform of multimodal data that is deeply integrated across species and covering broad areas of disease.