Comparative analyses of population-scale phenomic data in electronic medical records reveal race-specific disease networks.
Underrepresentation of racial groups represents an important challenge and major gap in phenomics research. Most of the current human phenomics research is based primarily on European populations; hence it is an important challenge to expand it to consider other population groups. One approach is to utilize data from EMR databases that contain patient data from diverse demographics and ancestries. The implications of this racial underrepresentation of data can be profound regarding effects on the healthcare delivery and actionability. To the best of our knowledge, our work is the first attempt to perform comparative, population-scale analyses of disease networks across three different populations, namely Caucasian (EA), African American (AA) and Hispanic/Latino (HL).



We compared susceptibility profiles and temporal connectivity patterns for 1988 diseases and 37 282 disease pairs represented in a clinical population of 1 025 573 patients. Accordingly, we revealed appreciable differences in disease susceptibility, temporal patterns, network structure and underlying disease connections between EA, AA and HL populations. We found 2158 significantly comorbid diseases for the EA cohort, 3265 for AA and 672 for HL. We further outlined key disease pair associations unique to each population as well as categorical enrichments of these pairs. Finally, we identified 51 key 'hub' diseases that are the focal points in the race-centric networks and of particular clinical importance. Incorporating race-specific disease comorbidity patterns will produce a more accurate and complete picture of the disease landscape overall and could support more precise understanding of disease relationships and patient management towards improved clinical outcomes.



rong.chen@mssm.edu or joel.dudley@mssm.edu



Supplementary data are available at Bioinformatics online.
Department of Genetics and Genomic Sciences Icahn Institute for Genomics and Multiscale Biology Harris Center for Precision Wellness, Icahn School of Medicine at Mount Sinai, New York City, NY 10029, USA.
Benjamin S
BS
Glicksberg
Department of Genetics and Genomic Sciences Icahn Institute for Genomics and Multiscale Biology Harris Center for Precision Wellness, Icahn School of Medicine at Mount Sinai, New York City, NY 10029, USA.
Li
L
Li
Department of Genetics and Genomic Sciences Icahn Institute for Genomics and Multiscale Biology Harris Center for Precision Wellness, Icahn School of Medicine at Mount Sinai, New York City, NY 10029, USA.
Marcus A
MA
Badgeley
Department of Genetics and Genomic Sciences Icahn Institute for Genomics and Multiscale Biology Harris Center for Precision Wellness, Icahn School of Medicine at Mount Sinai, New York City, NY 10029, USA.
Khader
K
Shameer
Department of Genetics and Genomic Sciences Icahn Institute for Genomics and Multiscale Biology Harris Center for Precision Wellness, Icahn School of Medicine at Mount Sinai, New York City, NY 10029, USA.
Roman
R
Kosoy
Department of Genetics and Genomic Sciences Icahn Institute for Genomics and Multiscale Biology.
Noam D
ND
Beckmann
Department of Biomedical Informatics, Harvard Medical School, Boston, 02115 MA, USA.
Nam
N
Pho
Department of Genetics and Genomic Sciences Icahn Institute for Genomics and Multiscale Biology.
Jörg
J
Hakenberg
Department of Genetics and Genomic Sciences Icahn Institute for Genomics and Multiscale Biology.
Meng
M
Ma
Department of Genetics and Genomic Sciences Icahn Institute for Genomics and Multiscale Biology.
Kristin L
KL
Ayers
Department of Genetics and Genomic Sciences Icahn Institute for Genomics and Multiscale Biology.
Gabriel E
GE
Hoffman
Department of Genetics and Genomic Sciences Icahn Institute for Genomics and Multiscale Biology.
Shuyu
S
Dan Li
Department of Genetics and Genomic Sciences Icahn Institute for Genomics and Multiscale Biology.
Eric E
EE
Schadt
Department of Biomedical Informatics, Harvard Medical School, Boston, 02115 MA, USA.
Chirag J
CJ
Patel
Department of Genetics and Genomic Sciences Icahn Institute for Genomics and Multiscale Biology.
Rong
R
Chen
Department of Genetics and Genomic Sciences Icahn Institute for Genomics and Multiscale Biology Harris Center for Precision Wellness, Icahn School of Medicine at Mount Sinai, New York City, NY 10029, USA Department of Population Health Science and Policy, New York City, NY 10029, USA.
Joel T
JT
Dudley
D001741:Black or African American; D016208:Databases, Factual; D057286:Electronic Health Records; D006630:Hispanic or Latino; D006801:Humans; D044465:White People