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1. Genomic diagnosis of rare pediatric disease in the United Kingdom and Ireland

Author

Wright, CF, Campbell, P, Eberhardt, RY, Aitken, S, Perrett, D, Brent, S, Danecek, P, Gardner, EJ, Chundru, VK, Lindsay, SJ, Andrews, K, Hampstead, J, Kaplanis, J, Samocha, KE, Middleton, A, Foreman, J, Hobson, RJ, Parker, MJ, Martin, HC, FitzPatrick, DR, Hurles, ME, Firth, HV, and Study, DDD

Subjects
General Medicine, Article
Abstract

Background Pediatric disorders include a range of highly penetrant, genetically heterogeneous conditions amenable to genomewide diagnostic approaches. Finding a molecular diagnosis is challenging but can have profound lifelong benefits. Methods We conducted a large-scale sequencing study involving more than 13,500 families with probands with severe, probably monogenic, difficult-to-diagnose developmental disorders from 24 regional genetics services in the United Kingdom and Ireland. Standardized phenotypic data were collected, and exome sequencing and microarray analyses were performed to investigate novel genetic causes. We developed an iterative variant analysis pipeline and reported candidate variants to clinical teams for validation and diagnostic interpretation to inform communication with families. Multiple regression analyses were performed to evaluate factors affecting the probability of diagnosis. Results A total of 13,449 probands were included in the analyses. On average, we reported 1.0 candidate variant per parent–offspring trio and 2.5 variants per singleton proband. With the use of clinical and computational approaches to variant classification, a diagnosis was made in approximately 41% of probands (5502 of 13,449), of whom 76% had a pathogenic de novo variant. Another 22% of probands (2997 of 13,449) had variants of uncertain significance in genes that were strongly linked to monogenic developmental disorders. Recruitment in a parent–offspring trio had the largest effect on the probability of diagnosis (odds ratio, 4.70; 95% confidence interval [CI], 4.16 to 5.31). Probands were less likely to receive a diagnosis if they were born extremely prematurely (i.e., 22 to 27 weeks’ gestation; odds ratio, 0.39; 95% CI, 0.22 to 0.68), had in utero exposure to antiepileptic medications (odds ratio, 0.44; 95% CI, 0.29 to 0.67), had mothers with diabetes (odds ratio, 0.52; 95% CI, 0.41 to 0.67), or were of African ancestry (odds ratio, 0.51; 95% CI, 0.31 to 0.78). Conclusions Among probands with severe, probably monogenic, difficult-to-diagnose developmental disorders, multimodal analysis of genomewide data had good diagnostic power, even after previous attempts at diagnosis. (Funded by the Health Innovation Challenge Fund and Wellcome Sanger Institute.)

Published
2023

2. Baseline Characteristics and Risk Profiles of Participants in the ISCHEMIA Randomized Clinical Trial

Author

Hochman, JS, Reynolds, HR, Bangalore, S, O'Brien, SM, Alexander, KP, Senior, R, Boden, WE, Stone, GW, Goodman, SG, Lopes, RD, Lopez-Sendon, J, White, HD, Maggioni, AP, Shaw, LJ, Min, JK, Picard, MH, Berman, DS, Chaitman, BR, Mark, DB, Spertus, JA, Cyr, DD, Bhargava, B, Ruzyllo, W, Wander, GS, Chernyavskiy, AM, Rosenberg, YD, Maron, DJ, Mavromatis, K, Miller, T, Banerjee, S, Abdul-Nour, K, Stone, PH, Jang, JJ, Weitz, S, Arnold, S, Shapiro, MD, El-Hajjar, M, McFalls, EO, Khouri, MG, Goldberg, JL, Goldweit, R, Cohen, RA, Winchester, DE, Kronenberg, M, Heitner, JF, Dauber, IM, Cannan, C, Sudarshan, S, Mehta, PK, Hedgepeth, CM, Sahul, Z, Booth, D, Setty, S, Barua, RS, Hage, F, Dajani, K, Arif, I, Trejo (Gutierrez), JF, Gemignani, A, Meadows, JL, Call, JT, Hannan, J, Martin, ET, Vorobiof, G, Moorman, A, Kinlay, S, Rayos, G, Seedhom, A, Kumkumian, G, Sedlis, SP, Tamis-Holland, JE, Saba, S, Badami, U, Marzo, K, Robbins, IH, Hamroff, GS, Little, RW, Lui, CY, Hu, B, Labovitz, AJ, Rodriguez, F, Deedwania, P, Sweeny, J, Spizzieri, C, Hochberg, CP, Salerno, WD, Wyman, R, Zarka, A, Haldis, T, Kohn, JA, Girotra, S, Almousalli, O, Krishnam, MS, Coram, R, Thomas, S, El Shahawy, M, Stafford, J, Abernethy, WB, Zurick, A, Meyer, TM, Rutkin, B, Bokhari, S, Sokol, SI, Hamzeh, I, Turner, MC, Good, AP, Shammas, NW, Chilton, R, Nguyen, PK, Jezior, M, Gordon, PC, Stenberg, R, Pedalino, RP, Wiesel, J, Juang, GJ, Al-Amoodi, M, Wohns, D, Lader, EW, Mumma, M, Dharmarajan, L, McGarvey, JFX, Downes, TR, Cheong, B, Potluri, S, Mastouri, RA, Li, D, Giedd, K, Old, W, Burt, F, Sokhon, K, Gopal, D, Valeti, US, Kobashigawa, J, Govindan, SC, Manjunath, CN, Pandit, N, Dwivedi, SK, Mathew, A, Gadkari, MA, Satheesh, S, Mathur, A, Christopher, J, Oomman, A, Naik, S, Grant, P, Kachru, R, Kumar, A, Kaul, U, Gamma, RA, De Belder, MA, Nageh, T, Lindsay, SJ, Hoye, A, Donnelly, P, Chauhan, A, Barr, C, Alfakih, K, Henriksen, P, Okane, P, De Silva, R, Conway, DSG, Sirker, AA, Hoole, SP, Witherow, FN, Johnston, N, Luckie, M, Sobolewska, J, Jeetley, P, Travill, C, Braganza, D, Henderson, R, Berry, C, Moriarty, AJ, Glover, JD, Mikhail, G, Gosselin, G, Diaz, A, Phaneuf, DC, Garg, P, Chow, BJW, Bainey, KR, Cheema, AN, Cha, J, Howarth, AG, Wong, G, Uxa, A, Galiwango, P, Lam, A, Mehta, S, Udell, J, Genereux, P, Hameed, A, Daba, L, Hueb, W, Smanio, PEP, De Quadros, AS, Vitola, JV, Marin-Neto, JA, Polanczyk, CA, Carvalho, AC, Alves Junior, AR, Dracoulakis, MDA, Figueiredo, E, Caramori, PR, Tumelero, R, Dall'Orto, F, Mesquita, CT, Ribeiro da Silva, EE, Saraiva, JF, Costantini, C, Demkow, M, Mazurek, T, Drozdz, J, Szwed, H, Witkowski, A, Gajos, G, Pruszczyk, P, Loboz-Grudzien, K, Lesiak, M, Reczuch, KW, Kalarus, Z, Musial, WJ, Bockeria, L, Bershtein, LL, Demchenko, EA, Lopez-Sendon, JL, Peteiro, J, Gonzalez Juanatey, JR, Sionis, A, Miro, V, Ortuno, FM, Blancas, MG, Luena, JEC, Fernandez-Aviles, F, Chen, J, Wu, Y, Ma, Y, Ji, Z, Yang, X, Lin, W, Zeng, H, Fu, X, Yang, B, Wang, S, Cheng, G, Zhao, Y, Fang, X, Zeng, Q, Su, X, Li, Q, Nie, S-P, Yu, Q, Wang, J, Zhang, S, Perna, GP, Provasoli, S, Monti, L, Di Chiara, A, Mortara, A, Galvani, M, Sicuro, M, Calabro, P, Tarantini, G, Racca, E, Briguori, C, Amati, R, Russo, A, Poh, K-K, Foo, D, Chua, T, Doerr, R, Sechtem, U, Schulze, PC, Nickenig, G, Schuchlenz, H, Lang, IM, Huber, K, Vertes, A, Varga, A, Fontos, G, Merkely, B, Kerecsen, G, Hinic, S, Beleslin, BD, Cemerlic-Adjic, N, Davidovic, G, Dekleva, MN, Stankovic, G, Apostolovic, S, Escobedo, J, Rosas, EA, Selvanayagam, JB, Thambar, ST, Beltrame, JF, Hillis, GS, Thuaire, C, Steg, P-G, Slama, MS, El Mahmoud, R, Nicollet, E, Barone-Rochette, G, Furber, A, Laucevicius, A, Kedhi, E, Riezebos, RK, Suryapranata, H, Ramos, R, Pinto, FJ, Ferreira, N, Guzman, L, Figal, JC, Alvarez, C, Courtis, J, Schiavi, L, Rubio, M, Devlin, GP, Stewart, RAH, Kedev, S, Held, C, Aspberg, J, Sharir, T, Kerner, A, Fukuda, K, Yasuda, S, Nishimura, S, Goetschalckx, K, Hung, C-L, Ntsekhe, M, Moccetti, T, Abdelhamid, M, Pop, C, Popescu, BA, Al-Mallah, MH, Ramos, WEM, Kuanprasert, S, Yamwong, S, Khairuddin, A, Ferguson, B, Harrington, R, Williams, D, Berger, J, Newman, J, Sidhu, M, Dzavik, V, Jiang, L, Keltai, M, Kohsaka, S, Maggioni, A, Mancini, GBJ, Merz, CNB, Weintraub, W, Ballantyne, C, Calfas, KJ, Davidson, M, Friedrich, M, Hachamovitch, R, Kwong, R, Harrell, F, Kullo, I, McManus, B, Cohen, DJ, Bugiardini, R, Celutkiene, J, Lyubarova, R, Mattina, D, Nwosu, S, Broderick, S, Cyr, D, Rockhold, F, Anstrom, K, Jones, P, Phillips, L, Hayes, SW, Friedman, JD, Gerlach, RJ, Kwong, RY, Mongeon, FP, Hung, J, Scherrer-Crosbie, M, Zeng, X, Ali, Z, Arsanjani, R, Budoff, M, Leipsic, J, Nakanishi, R, Youn, T, Orso, F, Zhang, H, Zhang, L, Diaz, R, Van de Werf, F, Fleg, J, Kirby, R, Jeffries, N, and Hochman JS, Reynolds HR, Bangalore S, O'Brien SM, Alexander KP, Senior R, Boden WE, Stone GW, Goodman SG, Lopes RD, Lopez-Sendon J, White HD, Maggioni AP, Shaw LJ, Min JK, Picard MH, Berman DS, Chaitman BR, Mark DB, Spertus JA, Cyr DD, Bhargava B, Ruzyllo W, Wander GS, Chernyavskiy AM, Rosenberg YD, Maron DJ, Mavromatis K, Miller T, Banerjee S, Abdul-Nour K, Stone PH, Jang JJ, Weitz S, Arnold S, Shapiro MD, El-Hajjar M, McFalls EO, Khouri MG, Goldberg JL, Goldweit R, Cohen RA, Winchester DE, Kronenberg M, Heitner JF, Dauber IM, Cannan C, Sudarshan S, Mehta PK, Hedgepeth CM, Sahul Z, Booth D, Setty S, Barua RS, Hage F, Dajani K, El-Hajjar M, Arif I, Trejo JF, Gemignani A, Meadows JL, Call JT, Hannan J, Martin ET, Vorobiof G, Moorman A, Kinlay S, Rayos G, Seedhom A, Kumkumian G, Sedlis SP, Tamis-Holland JE, Saba S, Badami U, Marzo K, Robbins IH, Hamroff GS, Little RW, Lui CY, Booth D, Hu B, Labovitz AJ, Maron DJ, Rodriguez F, Deedwania P, Sweeny J, Spizzieri C, Hochberg CP, Salerno WD, Wyman R, Zarka A, Haldis T, Kohn JA, Girotra S, Almousalli O, Krishnam MS, Coram R, Thomas S, El Shahawy M, Stafford J, Abernethy WB, Zurick A, Meyer TM, Rutkin B, Bokhari S, Sokol SI, Hamzeh I, Turner MC, Good AP, Shammas NW, Chilton R, Nguyen PK, Jezior M, Gordon PC, Stenberg R, Pedalino RP, Wiesel J, Juang GJ, Al-Amoodi M, Wohns D, Lader EW, Mumma M, Dharmarajan L, McGarvey JFX, Downes TR, Cheong B, Potluri S, Mastouri RA, Li DY, Giedd K, Old W, Burt F, Sokhon K, Gopal D, Valeti US, Kobashigawa J, Govindan SC, Manjunath CN, Pandit N, Dwivedi SK, Wander G, Bhargava B, Mathew A, Gadkari MA, Satheesh S, Mathur A, Christopher J, Oomman A, Naik S, Christopher J, Grant P, Kachru R, Kumar A, Christopher J, Kaul U, Gamma RA, de Belder MA, Nageh T, Lindsay SJ, Hoye A, Donnelly P, Chauhan A Barr C, Alfakih K, Henriksen P, Okane P, de Silva R, Conway DSG, Sirker AA, Hoole SP, Witherow FN, Johnston N, Luckie M, Sobolewska J, Jeetley P, Travill C, Braganza D, Henderson R, Berry C, Moriarty AJ, Glover JD, Mikhail G, Gosselin G, Diaz A, Phaneuf DC, Garg P, Chow BJW, Bainey KR, Cheema AN, Cheema AN, Cha J, Howarth AG, Wong G, Uxa A, Galiwango P, Lam A, Mehta S, Udell J, Genereux P, Hameed A, Daba L, Hueb W, Smanio PEP, de Quadros AS, Vitola JV, Marin-Neto JA, Polanczyk CA, Carvalho AC, Alves AR, Dracoulakis MDA, Figueiredo E, Caramori PR, Tumelero R, Dall'Orto F, Mesquita CT, da Silva EER, Saraiva JF, Costantini C, Demkow M, Mazurek T, Drozdz J, Szwed H, Witkowski A, Gajos G, Pruszczyk P, Loboz-Grudzien K, Lesiak M, Reczuch KW, Kalarus Z, Musial WJ, Bockeria L, Chernyavskiy AM, Bershtein LL, Demchenko EA, Lopez-Sendon JL, Peteiro J, Juanatey JRG, Sionis A, Miro V, Ortuno FM, Blancas MG, Luena JEC, Fernandez-Aviles F, Chen JY, Wu YJ, Ma YT, Ji Z, Yang XC, Lin WH, Zeng HS, Fu, X, Yang B, Wang ST, Cheng G, Zhao YL, Fang XH, Zeng QT, Su X, Li QX, Nie SP, Yu Q, Wang JA, Zhang SY, Perna GP, Provasoli S, Monti L, Di Chiara A, Mortara A, Galvani M, Sicuro M, Calabro P, Tarantini G, Racca E , Briguori C, Amati R, Russo A, Poh KK, Foo D, Chua, Doerr R, Sechtem U, Schulze PC, Nickenig G, Schuchlenz H, Lang IM, Huber K, Vertes A, Varga A, Fontos G, Merkely B, Kerecsen G, Hinic S, Beleslin BD, Cemerlic-Adjic N, Davidovic G, Dekleva MN, Stankovic G, Apostolovic S, Escobedo J, Rosas EA, Selvanayagam JB, Thambar ST, Beltrame JF, Hillis GS, Thuaire C, Steg PG, Slama MS, El Mahmoud R, Nicollet E, Barone-Rochette G, Furber A, Laucevicius A, Kedhi E, Riezebos RK, Suryapranata H, Ramos R, Pinto FJ, Ferreira N, Guzman L, Figal JC, Alvarez C, Courtis J, Schiavi L, Rubio M, Devlin GP, Stewart RAH, Kedev S, Held C, Aspberg, J, Sharir T, Kerner A, Fukuda K, Yasuda S, Nishimura S , Goetschalckx K, Hung CL, Ntsekhe M, Moccetti T, Abdelhamid M, Pop C, Popescu BA, Al-Mallah MH, Ramos WEM, Kuanprasert S, Yamwong S, Khairuddin A, O'Brien SM, Boden WE, Ferguson B, Harrington R, Stone GW, Williams D, Berger J, Newman J, Sidhu M, Mark DB, Shaw LJ, Spertus JA, Berman DS, Chaitman BR, Doerr R, Dzavik V, Goodman SG, Gosselin G, Held C, Jiang LX, Keltai M, Kohsaka S, Lopes RD, Lopez-Sendon JL, Maggioni A, Mancini GBJ, Merz CNB, Min JK, Picard MH, Ruzyllo W, Selvanayagam JB, Senior R, Steg PG, Szwed H, Weintraub W, White HD, Ballantyne C, Calfas KJ, Davidson M, Stone PH, Friedrich M, Hachamovitch R, Kwong R, Harrell F, Kullo I, McManus B, Cohen DJ, Bugiardini R, Celutkiene J, Escobedo J , Hoye A, Lyubarova R, Mattina D, Peteiro J, Nwosu S, Broderick S, Cyr D, Rockhold F, Anstrom K, Jones P, Phillips L, Hayes SW, Friedman JD, Gerlach RJ, Kwong RY, Mongeon FP, Hung J, Scherrer-Crosbie M, Zeng X, Ali Z, Genereux P, Arsanjani R, Budoff M, Leipsic J, Nakanishi R, Youn T , Orso F, Carvalho AC, Zhang HB, Zhang LH, Diaz R, Van de Werf F, Goetschalckx K, Rosenberg YD, Fleg J, Kirby R, Jeffries N.

Subjects
medicine.medical_specialty, Cardiac & Cardiovascular Systems, IMPACT, medicine.medical_treatment, Population, 030204 cardiovascular system & hematology, Revascularization, law.invention, MEDICAL THERAPY, ISCHEMIA Research Group, Angina, Coronary artery disease, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, law, Internal medicine, Severity of illness, SCORE, medicine, BENEFIT, 030212 general & internal medicine, cardiovascular diseases, education, education.field_of_study, OUTCOMES, Science & Technology, business.industry, PCI, medicine.disease, Clinical trial, PROGNOSTIC VALUE, Stenosis, Cardiology, Cardiovascular System & Cardiology, CORONARY-ARTERY-DISEASE, REVASCULARIZATION, Cardiology and Cardiovascular Medicine, business, ECHOCARDIOGRAPHY, Life Sciences & Biomedicine
Abstract

Importance It is unknown whether coronary revascularization, when added to optimal medical therapy, improves prognosis in patients with stable ischemic heart disease (SIHD) at increased risk of cardiovascular events owing to moderate or severe ischemia. Objective To describe baseline characteristics of participants enrolled and randomized in the International Study of Comparative Health Effectiveness With Medical and Invasive Approaches (ISCHEMIA) trial and to evaluate whether qualification by stress imaging or nonimaging exercise tolerance test (ETT) influenced risk profiles. Design, Setting, and Participants The ISCHEMIA trial recruited patients with SIHD with moderate or severe ischemia on stress testing. Blinded coronary computed tomography angiography was performed in most participants and reviewed by a core laboratory to exclude left main stenosis of at least 50% or no obstructive coronary artery disease (CAD) (

Published
2019

3. An integrated map of genetic variation from 1,092 human genomes

Author

Altshuler, DM, Durbin, RM, Abecasis, GR, Bentley, DR, Chakravarti, A, Clark, AG, Donnelly, P, Eichler, EE, Flicek, P, Gabriel, SB, Gibbs, RA, Green, ED, Hurles, ME, Knoppers, BM, Korbel, JO, Lander, ES, Lee, C, Lehrach, H, Mardis, ER, Marth, GT, McVean, GA, Nickerson, DA, Schmidt, JP, Sherry, ST, Wang, J, Wilson, RK, Dinh, H, Kovar, C, Lee, S, Lewis, L, Muzny, D, Reid, J, Wang, M, Fang, X, Guo, X, Jian, M, Jiang, H, Jin, X, Li, G, Li, J, Li, Y, Li, Z, Liu, X, Lu, Y, Ma, X, Su, Z, Tai, S, Tang, M, Wang, B, Wang, G, Wu, H, Wu, R, Yin, Y, Zhang, W, Zhao, J, Zhao, M, Zheng, X, Zhou, Y, Gupta, N, Clarke, L, Leinonen, R, Smith, RE, Zheng-Bradley, X, Grocock, R, Humphray, S, James, T, Kingsbury, Z, Sudbrak, R, Albrecht, MW, Amstislavskiy, VS, Borodina, TA, Lienhard, M, Mertes, F, Sultan, M, Timmermann, B, Yaspo, M-L, Fulton, L, Fulton, R, Weinstock, GM, Balasubramaniam, S, Burton, J, Danecek, P, Keane, TM, Kolb-Kokocinski, A, McCarthy, S, Stalker, J, Quail, M, Davies, CJ, Gollub, J, Webster, T, Wong, B, Zhan, Y, Auton, A, Yu, F, Bainbridge, M, Challis, D, Evani, US, Lu, J, Nagaswamy, U, Sabo, A, Wang, Y, Yu, J, Coin, LJM, Fang, L, Li, Q, Lin, H, Liu, B, Luo, R, Qin, N, Shao, H, Xie, Y, Ye, C, Yu, C, Zhang, F, Zheng, H, Zhu, H, Garrison, EP, Kural, D, Lee, W-P, Leong, WF, Ward, AN, Wu, J, Zhang, M, Griffin, L, Hsieh, C-H, Mills, RE, Shi, X, Von Grotthuss, M, Zhang, C, Daly, MJ, DePristo, MA, Banks, E, Bhatia, G, Carneiro, MO, Del Angel, G, Genovese, G, Handsaker, RE, Hartl, C, McCarroll, SA, Nemesh, JC, Poplin, RE, Schaffner, SF, Shakir, K, Yoon, SC, Lihm, J, Makarov, V, Jin, H, Kim, W, Kim, KC, Rausch, T, Beal, K, Cunningham, F, Herrero, J, McLaren, WM, Ritchie, GRS, Gottipati, S, Keinan, A, Rodriguez-Flores, JL, Sabeti, PC, Grossman, SR, Tabrizi, S, Tariyal, R, Cooper, DN, Ball, EV, Stenson, PD, Barnes, B, Bauer, M, Cheetham, RK, Cox, T, Eberle, M, Kahn, S, Murray, L, Peden, J, Shaw, R, Ye, K, Batzer, MA, Konkel, MK, Walker, JA, MacArthur, DG, Lek, M, Herwig, R, Shriver, MD, Bustamante, CD, Byrnes, JK, De la Vega, FM, Gravel, S, Kenny, EE, Kidd, JM, Lacroute, P, Maples, BK, Moreno-Estrada, A, Zakharia, F, Halperin, E, Baran, Y, Craig, DW, Christoforides, A, Homer, N, Izatt, T, Kurdoglu, AA, Sinari, SA, Squire, K, Xiao, C, Sebat, J, Bafna, V, Burchard, EG, Hernandez, RD, Gignoux, CR, Haussler, D, Katzman, SJ, Kent, WJ, Howie, B, Ruiz-Linares, A, Dermitzakis, ET, Lappalainen, T, Devine, SE, Maroo, A, Tallon, LJ, Rosenfeld, JA, Michelson, LP, Kang, HM, Anderson, P, Angius, A, Bigham, A, Blackwell, T, Busonero, F, Cucca, F, Fuchsberger, C, Jones, C, Jun, G, Lyons, R, Maschio, A, Porcu, E, Reinier, F, Sanna, S, Schlessinger, D, Sidore, C, Tan, A, Trost, MK, Awadalla, P, Hodgkinson, A, Lunter, G, Marchini, JL, Myers, S, Churchhouse, C, Delaneau, O, Gupta-Hinch, A, Iqbal, Z, Mathieson, I, Rimmer, A, Xifara, DK, Oleksyk, TK, Fu, Y, Xiong, M, Jorde, L, Witherspoon, D, Xing, J, Browning, BL, Alkan, C, Hajirasouliha, I, Hormozdiari, F, Ko, A, Sudmant, PH, Chen, K, Chinwalla, A, Ding, L, Dooling, D, Koboldt, DC, McLellan, MD, Wallis, JW, Wendl, MC, Zhang, Q, Tyler-Smith, C, Albers, CA, Ayub, Q, Chen, Y, Coffey, AJ, Colonna, V, Huang, N, Jostins, L, Li, H, Scally, A, Walter, K, Xue, Y, Zhang, Y, Gerstein, MB, Abyzov, A, Balasubramanian, S, Chen, J, Clarke, D, Habegger, L, Harmanci, AO, Jin, M, Khurana, E, Mu, XJ, Sisu, C, Degenhardt, J, Stuetz, AM, Church, D, Michaelson, JJ, Ben, B, Lindsay, SJ, Ning, Z, Frankish, A, Harrow, J, Fowler, G, Hale, W, Kalra, D, Barker, J, Kelman, G, Kulesha, E, Radhakrishnan, R, Roa, A, Smirnov, D, Streeter, I, Toneva, I, Vaughan, B, Ananiev, V, Belaia, Z, Beloslyudtsev, D, Bouk, N, Chen, C, Cohen, R, Cook, C, Garner, J, Hefferon, T, Kimelman, M, Liu, C, Lopez, J, Meric, P, O'Sullivan, C, Ostapchuk, Y, Phan, L, Ponomarov, S, Schneider, V, Shekhtman, E, Sirotkin, K, Slotta, D, Zhang, H, Barnes, KC, Beiswanger, C, Cai, H, Cao, H, Gharani, N, Henn, B, Jones, D, Kaye, JS, Kent, A, Kerasidou, A, Mathias, R, Ossorio, PN, Parker, M, Reich, D, Rotimi, CN, Royal, CD, Sandoval, K, Su, Y, Tian, Z, Tishkoff, S, Toji, LH, Via, M, Yang, H, Yang, L, Zhu, J, Bodmer, W, Bedoya, G, Ming, CZ, Yang, G, You, CJ, Peltonen, L, Garcia-Montero, A, Orfao, A, Dutil, J, Martinez-Cruzado, JC, Brooks, LD, Felsenfeld, AL, McEwen, JE, Clemm, NC, Duncanson, A, Dunn, M, Guyer, MS, Peterson, JL, 1000 Genomes Project Consortium, Dermitzakis, Emmanouil, Universitat de Barcelona, Massachusetts Institute of Technology. Department of Biology, Altshuler, David, and Lander, Eric S.

Subjects
Natural selection, LOCI, Genome-wide association study, Evolutionary biology, Continental Population Groups/genetics, Human genetic variation, VARIANTS, Genoma humà, Binding Sites/genetics, 0302 clinical medicine, RARE, Sequence Deletion/genetics, WIDE ASSOCIATION, ddc:576.5, Copy-number variation, MUTATION, Exome sequencing, transcription factor, Conserved Sequence, Human evolution, Sequence Deletion, Genetics, RISK, 0303 health sciences, Multidisciplinary, Continental Population Groups, 1000 Genomes Project Consortium, Genetic analysis, Genomics, Polymorphism, Single Nucleotide/genetics, Research Highlight, 3. Good health, Algorithm, Multidisciplinary Sciences, Genetic Variation/genetics, Map, Science & Technology - Other Topics, Conserved Sequence/genetics, Integrated approach, General Science & Technology, Genetics, Medical, Haplotypes/genetics, Biology, Polymorphism, Single Nucleotide, Evolution, Molecular, 03 medical and health sciences, Genetic variation, Humans, Transcription Factors/metabolism, POPULATION-STRUCTURE, 1000 Genomes Project, Polymorphism, Nucleotide Motifs, Alleles, 030304 developmental biology, COPY NUMBER VARIATION, Science & Technology, Binding Sites, Human genome, Genome, Human, Racial Groups, Genetic Variation, Genetics, Population, Haplotypes, Genome, Human/genetics, untranslated RNA, 030217 neurology & neurosurgery, Transcription Factors, Genome-Wide Association Study
Abstract

By characterizing the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a resource to help to understand the genetic contribution to disease. Here we describe the genomes of 1,092 individuals from 14 populations, constructed using a combination of low-coverage whole-genome and exome sequencing. By developing methods to integrate information across several algorithms and diverse data sources, we provide a validated haplotype map of 38 million single nucleotide polymorphisms, 1.4 million short insertions and deletions, and more than 14,000 larger deletions. We show that individuals from different populations carry different profiles of rare and common variants, and that low-frequency variants show substantial geographic differentiation, which is further increased by the action of purifying selection. We show that evolutionary conservation and coding consequence are key determinants of the strength of purifying selection, that rare-variant load varies substantially across biological pathways, and that each individual contains hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites. This resource, which captures up to 98% of accessible single nucleotide polymorphisms at a frequency of 1% in related populations, enables analysis of common and low-frequency variants in individuals from diverse, including admixed, populations., National Institutes of Health (U.S.) (Grant RC2HL102925), National Institutes of Health (U.S.) (Grant U54HG3067)

Published
2012

4. Determination of oxalate ion in bayer liquor using electrochemical method

Author

Seval Turhan, Betül Usta, Oktay Uysal, Yücel Şahin, Anadolu Üniversitesi, Fen Fakültesi, Kimya Bölümü, Lindsay, SJ, Anadolu Üniversitesi, Fen Fakültesi, Fizik Bölümü, and Şahin, Yücel

Subjects
Supersaturation, Precipitation (chemistry), Inorganic chemistry, technology, industry, and agriculture, food and beverages, engineering.material, equipment and supplies, Electrochemistry, Bayer process, Oxalate, Bayer Liquor, chemistry.chemical_compound, Bauxite, Digestion (alchemy), chemistry, engineering, Pencil Graphite Electrode, Differential Pulse Voltammetry, Hydrate
Abstract

Symposium on Light Metals / TMS 140th Annual Meeting and Exhibition -- FEB 27-MAR 03, 2011 -- San Diego, CA, WOS: 000324515400038, bauxite with caustic liquor and the subsequent precipitation of hydrated alumina [1]. Most bauxite contains organic compounds in various amounts. Depending upon the digestion conditions, 5-10% of the organic carbon is converted to sodiumoxalate [2]. When sodiumoxalate, if not controlled in Bayer process, builds up to a certain level of supersaturation, it precipitates out in the hydrate precipitator tank. This co-precipitation affects the quality of alumina [3]. In this study, we investigated the electrochemical determination of oxalate ion by using differential puls voltammetry in Bayer liquor. A linear relationship between oxalate concentration and current response was obtained with good reproducibility of the current., TMS, TMS Aluminum Comm

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