TY - JOUR
T1 - Navigating the phenotype frontier
T2 - The monarch initiative
AU - McMurry, Julie A.
AU - Köhler, Sebastian
AU - Washington, Nicole L.
AU - Balhoff, James P.
AU - Borromeo, Charles
AU - Brush, Matthew
AU - Carbon, Seth
AU - Conlin, Tom
AU - Dunn, Nathan
AU - Engelstad, Mark
AU - Foster, Erin
AU - Gourdine, Jean Philippe
AU - Jacobsen, Julius O.B.
AU - Keith, Daniel
AU - Laraway, Bryan
AU - Xuan, Jeremy Nguyen
AU - Shefchek, Kent
AU - Vasilevsky, Nicole A.
AU - Yuan, Zhou
AU - Lewis, Suzanna E.
AU - Hochheiser, Harry
AU - Groza, Tudor
AU - Smedley, Damian
AU - Robinson, Peter N.
AU - Mungall, Christopher J.
AU - Haendel, Melissa A.
N1 - Publisher Copyright:
© 2016 by the Genetics Society of America.
PY - 2016/8
Y1 - 2016/8
N2 - The principles of genetics apply across the entire tree of life. At the cellular level we share biological mechanisms with species from which we diverged millions, even billions of years ago. We can exploit this common ancestry to learn about health and disease, by analyzing DNA and protein sequences, but also through the observable outcomes of genetic differences, i.e. phenotypes. To solve challenging disease problems we need to unify the heterogeneous data that relates genomics to disease traits. Without a big-picture view of phenotypic data, many questions in genetics are difficult or impossible to answer. The Monarch Initiative (https://monarchinitiative.org) provides tools for genotype-phenotype analysis, genomic diagnostics, and precision medicine across broad areas of disease.
AB - The principles of genetics apply across the entire tree of life. At the cellular level we share biological mechanisms with species from which we diverged millions, even billions of years ago. We can exploit this common ancestry to learn about health and disease, by analyzing DNA and protein sequences, but also through the observable outcomes of genetic differences, i.e. phenotypes. To solve challenging disease problems we need to unify the heterogeneous data that relates genomics to disease traits. Without a big-picture view of phenotypic data, many questions in genetics are difficult or impossible to answer. The Monarch Initiative (https://monarchinitiative.org) provides tools for genotype-phenotype analysis, genomic diagnostics, and precision medicine across broad areas of disease.
KW - Comparative medicine
KW - Data integration
KW - Disease diagnosis
KW - Disease discovery
KW - Phenotype ontologies
UR - http://www.scopus.com/inward/record.url?scp=84981508206&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84981508206&partnerID=8YFLogxK
U2 - 10.1534/genetics.116.188870
DO - 10.1534/genetics.116.188870
M3 - Article
C2 - 27516611
AN - SCOPUS:84981508206
SN - 0016-6731
VL - 203
SP - 1491
EP - 1495
JO - Genetics
JF - Genetics
IS - 4
ER -