Whole_Exome_Sequencing_of_INTERVAL - EGA European Genome-Phenome Archive

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Dataset ID	Description	Technology	Samples
EGAD00001002221	Whole exome sequencing of a subset of participants from the INTERVAL study.	Illumina HiSeq 2000	4502

Publications	Citations
The influence of rare variants in circulating metabolic biomarkers. Riveros-Mckay F, Oliver-Williams C, Karthikeyan S, Walter K, Kundu K, Ouwehand WH, Roberts D, Di Angelantonio E, Soranzo N, Danesh J, INTERVAL Study, Wheeler E, Zeggini E, Butterworth AS, Barroso I. PLoS Genet 16: 2020 e1008605	4
Exome Sequencing Identifies Genes and Gene Sets Contributing to Severe Childhood Obesity, Linking PHIP Variants to Repressed POMC Transcription. Marenne G, Hendricks AE, Perdikari A, Bounds R, Payne F, Keogh JM, Lelliott CJ, Henning E, Pathan S, Ashford S, Bochukova EG, Mistry V, Daly A, Hayward C, INTERVAL, UK10K Consortium, Wareham NJ, O'Rahilly S, Langenberg C, Wheeler E, Zeggini E, Farooqi IS, Barroso I. Cell Metab 31: 2020 1107-1119.e12	29
Predicting novel candidate human obesity genes and their site of action by systematic functional screening in Drosophila. Agrawal N, Lawler K, Davidson CM, Keogh JM, Legg R, INTERVAL, Barroso I, Farooqi IS, Brand AH. PLoS Biol 19: 2021 e3001255	7
Whole-exome sequencing identifies rare genetic variants associated with human plasma metabolites. Bomba L, Walter K, Guo Q, Surendran P, Kundu K, Nongmaithem S, Karim MA, Stewart ID, Langenberg C, Danesh J, Di Angelantonio E, Roberts DJ, Ouwehand WH, INTERVAL study, Dunham I, Butterworth AS, Soranzo N. Am J Hum Genet 109: 2022 1038-1054	13
Human loss-of-function variants in the serotonin 2C receptor associated with obesity and maladaptive behavior. He Y, Brouwers B, Liu H, Liu H, Lawler K, Mendes de Oliveira E, Lee DK, Yang Y, Cox AR, Keogh JM, Henning E, Bounds R, Perdikari A, Ayinampudi V, Wang C, Yu M, Tu L, Zhang N, Yin N, Han J, Scarcelli NA, Yan Z, Conde KM, Potts C, Bean JC, Wang M, Hartig SM, Liao L, Xu J, Barroso I, Mokrosinski J, Xu Y, Sadaf Farooqi I. Nat Med 28: 2022 2537-2546	16
Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease. Zhao Y, Chukanova M, Kentistou KA, Fairhurst-Hunter Z, Siegert AM, Jia RY, Dowsett GKC, Gardner EJ, Lawler K, Day FR, Kaisinger LR, Tung YL, Lam BYH, Chen HC, Wang Q, Berumen-Campos J, Kuri-Morales P, Tapia-Conyer R, Alegre-Diaz J, Barroso I, Emberson J, Torres JM, Collins R, Saleheen D, Smith KR, Paul DS, Merkle F, Farooqi IS, Wareham NJ, Petrovski S, O'Rahilly S, Ong KK, Yeo GSH, Perry JRB. Nat Genet 56: 2024 579-584	4