Human Health & Disease
A healthy, optimal life that enables individuals to achieve their personal potential is the goal for us all. Genetics, combined with different environmental interactions, makes every individual unique and the current one-size-fits-all medical solutions, inadequate. Building upon genomic expertise at JCVI, the Center for Human Performance aims to widen our understanding of how individualized markers affect human performance, traits and diseases. Utilizing advanced science and artificial intelligence approaches, we will identify key markers that enable optimal living, as well as risk factors for disease. It is our belief that this research will contribute to advancing the understanding of human health, and will enhance lives beyond managing health risks.
Proceedings of the National Academy of Sciences of the United States of America. 2020-02-11; 117.6: 3053-3062.
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging
Genome medicine. 2020-01-10; 12.1: 7.
An unsupervised learning approach to identify novel signatures of health and disease from multimodal data
Proceedings of the National Academy of Sciences of the United States of America. 2019-04-30; 116.18: 8960-8965.
Functional characterization of 3D protein structures informed by human genetic diversity
Cell metabolism. 2019-02-05; 29.2: 488-500.e2.
Profound Perturbation of the Metabolome in Obesity Is Associated with Health Risk
European journal of human genetics : EJHG. 2019-01-01; 27.1: 150-159.
Novel insight into the genetic basis of high-altitude pulmonary hypertension in Kyrgyz highlanders
Nature genetics. 2018-06-01; 50.6: 790-795.
The fecal metabolome as a functional readout of the gut microbiome
Science (New York, N.Y.). 2018-04-20; 360.6386: 327-331.
Paternally inherited cis-regulatory structural variants are associated with autism
PLoS genetics. 2018-04-05; 14.4: e1007308.
Comparison of phasing strategies for whole human genomes
American journal of human genetics. 2018-04-05; 102.4: 609-619.
Identification of Misclassified ClinVar Variants via Disease Population Prevalence
Proceedings of the National Academy of Sciences of the United States of America. 2018-04-03; 115.14: 3686-3691.
Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults
Scientific reports. 2018-03-12; 8.1: 4333.
Microbial metagenome of urinary tract infection
Nature genetics. 2018-03-01; 50.3: 333-337.
The human noncoding genome defined by genetic diversity
EBioMedicine. 2018-02-15; 28.316-323.
Acetaminophen (Paracetamol) Use Modifies the Sulfation of Sex Hormones
Clinical and translational gastroenterology. 2018-01-18; 9.1: e132.
Genetic risk, dysbiosis, and treatment stratification using host genome and gut microbiome in inflammatory bowel disease
Nature reviews. Genetics. 2018-01-01; 19.1: 51-62.
Human gene essentiality
Proceedings of the National Academy of Sciences of the United States of America. 2017-09-19; 114.38: 10166-10171.
Identification of individuals by trait prediction using whole-genome sequencing data
Proceedings of the National Academy of Sciences of the United States of America. 2017-07-25; 114.30: 8059-8064.
Fast and accurate HLA typing from short-read next-generation sequence data with xHLA
Cell metabolism. 2017-05-02; 25.5: 1054-1062.e5.
Gut Microbiome-Based Metagenomic Signature for Non-invasive Detection of Advanced Fibrosis in Human Nonalcoholic Fatty Liver Disease
BMC genomics. 2017-04-13; 18.1: 296.
Utilization of defined microbial communities enables effective evaluation of meta-genomic assemblies
Nature genetics. 2017-04-01; 49.4: 568-578.
Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites
Cancer prevention research (Philadelphia, Pa.). 2017-04-01; 10.4: 226-234.
The Human Microbiome and Cancer
PLoS pathogens. 2017-03-22; 13.3: e1006292.
The blood DNA virome in 8,000 humans
Physiological genomics. 2016-12-01; 48.12: 922-927.
Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing
Proceedings of the National Academy of Sciences of the United States of America. 2016-10-18; 113.42: 11901-11906.
Deep sequencing of 10,000 human genomes
Scientific reports. 2016-08-25; 6.31731.
A robust ambient temperature collection and stabilization strategy: Enabling worldwide functional studies of the human microbiome
Microbiome. 2016-07-30; 4.1: 39.
Microbial diversity in individuals and their household contacts following typical antibiotic courses
Cell metabolism. 2016-06-14; 23.6: 949-950.
Dynamics of an Aging Genome
Proceedings of the National Academy of Sciences of the United States of America. 2015-11-10; 112.45: 14024-9.
Library preparation methodology can influence genomic and functional predictions in human microbiome research
This project is currently seeking a funding partner. Please contact the JCVI Development Office.
Sr. Vice President of Philanthropy and Strategic Alliances