Human Health & Disease
SEEKING FUNDING
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.
Principal Investigator
Related Research
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SEEKING FUNDING
Publications
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
Hou YC, Yu HC, Martin R, Cirulli ET, Schenker-Ahmed NM, Hicks M, Cohen IV, Jönsson TJ, Heister R, Napier L, Swisher CL, Dominguez S, Tang H, Li W, Perkins BA, Barea J, Rybak C, Smith E, Duchicela K, Doney M, Brar P, Hernandez N, Kirkness EF, Kahn AM, Venter JC, Karow DS, Caskey CT
PMID: 31980526
Genome medicine. 2020-01-10; 12.1: 7.
An unsupervised learning approach to identify novel signatures of health and disease from multimodal data
Shomorony I, Cirulli ET, Huang L, Napier LA, Heister RR, Hicks M, Cohen IV, Yu HC, Swisher CL, Schenker-Ahmed NM, Li W, Nelson KE, Brar P, Kahn AM, Spector TD, Caskey CT, Venter JC, Karow DS, Kirkness EF, Shah N
PMID: 31924279
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
Hicks M, Bartha I, di Iulio J, Venter JC, Telenti A
PMID: 30988206
Cell metabolism. 2019-02-05; 29.2: 488-500.e2.
Profound Perturbation of the Metabolome in Obesity Is Associated with Health Risk
Cirulli ET, Guo L, Leon Swisher C, Shah N, Huang L, Napier LA, Kirkness EF, Spector TD, Caskey CT, Thorens B, Venter JC, Telenti A
PMID: 30318341
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
Iranmehr A, Stobdan T, Zhou D, Poulsen O, Strohl KP, Aldashev A, Telenti A, Wong EHM, Kirkness EF, Venter JC, Bafna V, Haddad GG
PMID: 30254217
Nature genetics. 2018-06-01; 50.6: 790-795.
The fecal metabolome as a functional readout of the gut microbiome
Zierer J, Jackson MA, Kastenmüller G, Mangino M, Long T, Telenti A, Mohney RP, Small KS, Bell JT, Steves CJ, Valdes AM, Spector TD, Menni C
PMID: 29808030
Science (New York, N.Y.). 2018-04-20; 360.6386: 327-331.
Paternally inherited cis-regulatory structural variants are associated with autism
Brandler WM, Antaki D, Gujral M, Kleiber ML, Whitney J, Maile MS, Hong O, Chapman TR, Tan S, Tandon P, Pang T, Tang SC, Vaux KK, Yang Y, Harrington E, Juul S, Turner DJ, Thiruvahindrapuram B, Kaur G, Wang Z, Kingsmore SF, Gleeson JG, Bisson D, Kakaradov B, Telenti A, Venter JC, Corominas R, Toma C, Cormand B, Rueda I, Guijarro S, Messer KS, Nievergelt CM, Arranz MJ, Courchesne E, Pierce K, Muotri AR, Iakoucheva LM, Hervas A, Scherer SW, Corsello C, Sebat J
PMID: 29674594
PLoS genetics. 2018-04-05; 14.4: e1007308.
Comparison of phasing strategies for whole human genomes
Choi Y, Chan AP, Kirkness E, Telenti A, Schork NJ
PMID: 29621242
American journal of human genetics. 2018-04-05; 102.4: 609-619.
Identification of Misclassified ClinVar Variants via Disease Population Prevalence
Shah N, Hou YC, Yu HC, Sainger R, Caskey CT, Venter JC, Telenti A
PMID: 29625023
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
Perkins BA, Caskey CT, Brar P, Dec E, Karow DS, Kahn AM, Hou YC, Shah N, Boeldt D, Coughlin E, Hands G, Lavrenko V, Yu J, Procko A, Appis J, Dale AM, Guo L, Jönsson TJ, Wittmann BM, Bartha I, Ramakrishnan S, Bernal A, Brewer JB, Brewerton S, Biggs WH, Turpaz Y, Venter JC
PMID: 29555771
Scientific reports. 2018-03-12; 8.1: 4333.
Microbial metagenome of urinary tract infection
Moustafa A, Li W, Singh H, Moncera KJ, Torralba MG, Yu Y, Manuel O, Biggs W, Venter JC, Nelson KE, Pieper R, Telenti A
PMID: 29531289
Nature genetics. 2018-03-01; 50.3: 333-337.
The human noncoding genome defined by genetic diversity
di Iulio J, Bartha I, Wong EHM, Yu HC, Lavrenko V, Yang D, Jung I, Hicks MA, Shah N, Kirkness EF, Fabani MM, Biggs WH, Ren B, Venter JC, Telenti A
PMID: 29483654
EBioMedicine. 2018-02-15; 28.316-323.
Acetaminophen (Paracetamol) Use Modifies the Sulfation of Sex Hormones
Cohen IV, Cirulli ET, Mitchell MW, Jonsson TJ, Yu J, Shah N, Spector TD, Guo L, Venter JC, Telenti A
PMID: 29398597
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
Moustafa A, Li W, Anderson EL, Wong EHM, Dulai PS, Sandborn WJ, Biggs W, Yooseph S, Jones MB, Venter JC, Nelson KE, Chang JT, Telenti A, Boland BS
PMID: 29345635
Nature reviews. Genetics. 2018-01-01; 19.1: 51-62.
Human gene essentiality
Bartha I, di Iulio J, Venter JC, Telenti A
PMID: 29082913
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
Lippert C, Sabatini R, Maher MC, Kang EY, Lee S, Arikan O, Harley A, Bernal A, Garst P, Lavrenko V, Yocum K, Wong T, Zhu M, Yang WY, Chang C, Lu T, Lee CWH, Hicks B, Ramakrishnan S, Tang H, Xie C, Piper J, Brewerton S, Turpaz Y, Telenti A, Roby RK, Och FJ, Venter JC
PMID: 28874526
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
Xie C, Yeo ZX, Wong M, Piper J, Long T, Kirkness EF, Biggs WH, Bloom K, Spellman S, Vierra-Green C, Brady C, Scheuermann RH, Telenti A, Howard S, Brewerton S, Turpaz Y, Venter JC
PMID: 28674023
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
Loomba R, Seguritan V, Li W, Long T, Klitgord N, Bhatt A, Dulai PS, Caussy C, Bettencourt R, Highlander SK, Jones MB, Sirlin CB, Schnabl B, Brinkac L, Schork N, Chen CH, Brenner DA, Biggs W, Yooseph S, Venter JC, Nelson KE
PMID: 28467925
BMC genomics. 2017-04-13; 18.1: 296.
Utilization of defined microbial communities enables effective evaluation of meta-genomic assemblies
Greenwald WW, Klitgord N, Seguritan V, Yooseph S, Venter JC, Garner C, Nelson KE, Li W
PMID: 28407798
Nature genetics. 2017-04-01; 49.4: 568-578.
Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites
Long T, Hicks M, Yu HC, Biggs WH, Kirkness EF, Menni C, Zierer J, Small KS, Mangino M, Messier H, Brewerton S, Turpaz Y, Perkins BA, Evans AM, Miller LA, Guo L, Caskey CT, Schork NJ, Garner C, Spector TD, Venter JC, Telenti A
PMID: 28263315
Cancer prevention research (Philadelphia, Pa.). 2017-04-01; 10.4: 226-234.
The Human Microbiome and Cancer
Rajagopala SV, Vashee S, Oldfield LM, Suzuki Y, Venter JC, Telenti A, Nelson KE
PMID: 28096237
PLoS pathogens. 2017-03-22; 13.3: e1006292.
The blood DNA virome in 8,000 humans
Moustafa A, Xie C, Kirkness E, Biggs W, Wong E, Turpaz Y, Bloom K, Delwart E, Nelson KE, Venter JC, Telenti A
PMID: 28328962
Physiological genomics. 2016-12-01; 48.12: 922-927.
Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing
Branham K, Matsui H, Biswas P, Guru AA, Hicks M, Suk JJ, Li H, Jakubosky D, Long T, Telenti A, Nariai N, Heckenlively JR, Frazer KA, Sieving PA, Ayyagari R
PMID: 27764769
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
Telenti A, Pierce LC, Biggs WH, di Iulio J, Wong EH, Fabani MM, Kirkness EF, Moustafa A, Shah N, Xie C, Brewerton SC, Bulsara N, Garner C, Metzker G, Sandoval E, Perkins BA, Och FJ, Turpaz Y, Venter JC
PMID: 27702888
Scientific reports. 2016-08-25; 6.31731.
A robust ambient temperature collection and stabilization strategy: Enabling worldwide functional studies of the human microbiome
Anderson EL, Li W, Klitgord N, Highlander SK, Dayrit M, Seguritan V, Yooseph S, Biggs W, Venter JC, Nelson KE, Jones MB
PMID: 27558918
Microbiome. 2016-07-30; 4.1: 39.
Microbial diversity in individuals and their household contacts following typical antibiotic courses
Abeles SR, Jones MB, Santiago-Rodriguez TM, Ly M, Klitgord N, Yooseph S, Nelson KE, Pride DT
PMID: 27473422
Cell metabolism. 2016-06-14; 23.6: 949-950.
Dynamics of an Aging Genome
Telenti A, Perkins BA, Venter JC
PMID: 27304490
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
Jones MB, Highlander SK, Anderson EL, Li W, Dayrit M, Klitgord N, Fabani MM, Seguritan V, Green J, Pride DT, Yooseph S, Biggs W, Nelson KE, Venter JC
PMID: 26512100
Principal Investigator
Related Research
Related Research
SEEKING FUNDING
This project is currently seeking a funding partner. Please contact the JCVI Development Office.
Jill Mullen
Sr. Vice President of Philanthropy and Strategic Alliances