Search Vanderbilt Publications

Mapping the proteo-genomic convergence of human diseases.
Pietzner M, Wheeler E, Carrasco-Zanini J, Cortes A, Koprulu M, Wörheide MA, Oerton E, Cook J, Stewart ID, Kerrison ND, Luan J, Raffler J, Arnold M, Arlt W, O'Rahilly S, Kastenmüller G, Gamazon ER, Hingorani AD, Scott RA, Wareham NJ, Langenberg C
(2021) Science 374: eabj1541
MeSH Terms: Aging, Alternative Splicing, Blood Proteins, COVID-19, Connective Tissue Diseases, Disease, Drug Development, Female, Gallstones, Genetic Association Studies, Genetic Variation, Genome, Human, Genome-Wide Association Study, Genomics, Humans, Internet, Male, Phenotype, Proteins, Proteome, Quantitative Trait Loci, Sex Characteristics
Added October 15, 2021

Multilayer modelling of the human transcriptome and biological mechanisms of complex diseases and traits.
Azevedo T, Dimitri GM, Lió P, Gamazon ER
(2021) NPJ Syst Biol Appl 7: 24
MeSH Terms: Gene Regulatory Networks, Genomics, Humans, Organ Specificity, Phenotype, Transcriptome
Added May 30, 2021

Revisiting Some Useful Statistical Guidelines in in Response to a Changing Landscape.
Highland HM, Gamazon ER, Below JE
(2021) Circ Res 128: 1724-1727
MeSH Terms: American Heart Association, Control Groups, Correlation of Data, Data Analysis, Data Display, Data Interpretation, Statistical, Genomics, Information Dissemination, Periodicals as Topic, Probability, Sample Size, United States
Added May 26, 2021

Multi-omic analysis elucidates the genetic basis of hydrocephalus.
Hale AT, Bastarache L, Morales DM, Wellons JC, Limbrick DD, Gamazon ER
(2021) Cell Rep 35: 109085
MeSH Terms: Animals, Genomics, Humans, Hydrocephalus, Mice
Added May 6, 2021

Fecal metagenomics and metabolomics reveal gut microbial changes after bariatric surgery.
Yu D, Shu XO, Howard EF, Long J, English WJ, Flynn CR
(2020) Surg Obes Relat Dis 16: 1772-1782
MeSH Terms: Bariatric Surgery, Female, Gastric Bypass, Gastrointestinal Microbiome, Humans, Male, Metabolomics, Metagenomics, Middle Aged, Pilot Projects
Added August 18, 2020

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status.
Feng H, Gusev A, Pasaniuc B, Wu L, Long J, Abu-Full Z, Aittomäki K, Andrulis IL, Anton-Culver H, Antoniou AC, Arason A, Arndt V, Aronson KJ, Arun BK, Asseryanis E, Auer PL, Azzollini J, Balmaña J, Barkardottir RB, Barnes DR, Barrowdale D, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Białkowska K, Blanco A, Blomqvist C, Boeckx B, Bogdanova NV, Bojesen SE, Bolla MK, Bonanni B, Borg A, Brauch H, Brenner H, Briceno I, Broeks A, Brüning T, Burwinkel B, Cai Q, Caldés T, Caligo MA, Campbell I, Canisius S, Campa D, Carter BD, Carter J, Castelao JE, Chang-Claude J, Chanock SJ, Christiansen H, Chung WK, Claes KBM, Clarke CL, GEMO Study Collaborators, EMBRACE Collaborators, GC-HBOC study Collaborators, Couch FJ, Cox A, Cross SS, Cybulski C, Czene K, Daly MB, de la Hoya M, De Leeneer K, Dennis J, Devilee P, Diez O, Domchek SM, Dörk T, Dos-Santos-Silva I, Dunning AM, Dwek M, Eccles DM, Ejlertsen B, Ellberg C, Engel C, Eriksson M, Fasching PA, Fletcher O, Flyger H, Fostira F, Friedman E, Fritschi L, Frost D, Gabrielson M, Ganz PA, Gapstur SM, Garber J, García-Closas M, García-Sáenz JA, Gaudet MM, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Greene MH, Gronwald J, Guénel P, Haiman CA, Hall P, Hamann U, Hake C, He W, Heyworth J, Hogervorst FBL, Hollestelle A, Hooning MJ, Hoover RN, Hopper JL, Huang G, Hulick PJ, Humphreys K, Imyanitov EN, ABCTB Investigators, HEBON Investigators, BCFR Investigators, OCGN Investigators, Isaacs C, Jakimovska M, Jakubowska A, James P, Janavicius R, Jankowitz RC, John EM, Johnson N, Joseph V, Jung A, Karlan BY, Khusnutdinova E, Kiiski JI, Konstantopoulou I, Kristensen VN, Laitman Y, Lambrechts D, Lazaro C, Leroux D, Leslie G, Lester J, Lesueur F, Lindor N, Lindström S, Lo WY, Loud JT, Lubiński J, Makalic E, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martens JWM, Martinez ME, Matricardi L, Maurer T, Mavroudis D, McGuffog L, Meindl A, Menon U, Michailidou K, Kapoor PM, Miller A, Montagna M, Moreno F, Moserle L, Mulligan AM, Muranen TA, Nathanson KL, Neuhausen SL, Nevanlinna H, Nevelsteen I, Nielsen FC, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Olsson H, Osorio A, Papp J, Park-Simon TW, Parsons MT, Pedersen IS, Peixoto A, Peterlongo P, Peto J, Pharoah PDP, Phillips KA, Plaseska-Karanfilska D, Poppe B, Pradhan N, Prajzendanc K, Presneau N, Punie K, Pylkäs K, Radice P, Rantala J, Rashid MU, Rennert G, Risch HA, Robson M, Romero A, Saloustros E, Sandler DP, Santos C, Sawyer EJ, Schmidt MK, Schmidt DF, Schmutzler RK, Schoemaker MJ, Scott RJ, Sharma P, Shu XO, Simard J, Singer CF, Skytte AB, Soucy P, Southey MC, Spinelli JJ, Spurdle AB, Stone J, Swerdlow AJ, Tapper WJ, Taylor JA, Teixeira MR, Terry MB, Teulé A, Thomassen M, Thöne K, Thull DL, Tischkowitz M, Toland AE, Tollenaar RAEM, Torres D, Truong T, Tung N, Vachon CM, van Asperen CJ, van den Ouweland AMW, van Rensburg EJ, Vega A, Viel A, Vieiro-Balo P, Wang Q, Wappenschmidt B, Weinberg CR, Weitzel JN, Wendt C, Winqvist R, Yang XR, Yannoukakos D, Ziogas A, Milne RL, Easton DF, Chenevix-Trench G, Zheng W, Kraft P, Jiang X
(2020) Genet Epidemiol 44: 442-468
MeSH Terms: Breast Neoplasms, Estrogens, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Genomics, Humans, Receptors, Estrogen, Risk Assessment, Transcriptome, Vesicular Transport Proteins
Added March 3, 2020

CNV Association of Diverse Clinical Phenotypes from eMERGE reveals novel disease biology underlying cardiovascular disease.
Glessner JT, Li J, Desai A, Palmer M, Kim D, Lucas AM, Chang X, Connolly JJ, Almoguera B, Harley JB, Jarvik GP, Ritchie MD, Sleiman PMA, Roden DM, Crosslin D, Hakonarson H
(2020) Int J Cardiol 298: 107-113
MeSH Terms: Aged, Aged, 80 and over, Body Mass Index, Cardiovascular Diseases, DNA Copy Number Variations, Electrocardiography, Electronic Health Records, Female, Genome-Wide Association Study, Genomics, Humans, Male, Middle Aged, Phenotype, Polymorphism, Single Nucleotide
Added March 24, 2020

Building evidence and measuring clinical outcomes for genomic medicine.
Peterson JF, Roden DM, Orlando LA, Ramirez AH, Mensah GA, Williams MS
(2019) Lancet 394: 604-610
MeSH Terms: Diagnostic Tests, Routine, Genome, Human, Genomics, High-Throughput Nucleotide Sequencing, Humans, Patient Outcome Assessment, Precision Medicine, Standard of Care
Added March 24, 2020

Genomic medicine for undiagnosed diseases.
Wise AL, Manolio TA, Mensah GA, Peterson JF, Roden DM, Tamburro C, Williams MS, Green ED
(2019) Lancet 394: 533-540
MeSH Terms: Adult, Child, Early Diagnosis, Genomics, Humans, Phenotype, Prenatal Diagnosis, Rare Diseases, Sequence Analysis, DNA, Whole Exome Sequencing, Whole Genome Sequencing
Added March 24, 2020

Genome-wide enhancer annotations differ significantly in genomic distribution, evolution, and function.
Benton ML, Talipineni SC, Kostka D, Capra JA
(2019) BMC Genomics 20: 511
MeSH Terms: Cell Line, Databases, Genetic, Enhancer Elements, Genetic, Evolution, Molecular, Gene Expression Regulation, Genomics, Humans, Liver, Molecular Sequence Annotation, Myocardium
Added March 3, 2020