12 research outputs found
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Novel antioxidant compounds
- Author
- Publication venue
- Publication date
- 02/04/1996
- Field of study
The autoxidation process, mechanism of action of radical-trapping antioxidants and the problem of textile yellowing are described and reviewed. Structures implicit in the function of an antioxidant by promotion of radical stabihsation are identified and textile yellowing is attributed largely to reactions of antioxidants with NO2. The reaction of ethanolic solutions of 2,6-di-r-butyl-4-methylphenol (BHT) with several concentrations of gaseous NO2 are investigated. The main products are 2,6-dir-butyl-4-methyl-4-hydroxy-2,5-cyclohexadienone (MQOL) and 2,6-di-r-butyl-4-methyl-4-nitro-2,5-cyclohexadienone (MQN). Additional products are observed when lower- concentrations of BHT and NO2 are employed. The major product, MQN, is shown to be unstable in aqueous ethanohc solutions and the yellowing component of the reaction solutions is identified as 2,6-di-r-butyl-4-nitrophenol (NP).Two methods for screening potential compounds for antioxidant activity involving the inhibition of BHT product formation and the NO2-/NO3-ratio are described. They indicate that kojic acid, maltol and 2,5-dimethyl-4-hydroxyfuranone possess similar degrees of antioxidant activity to BHT. This is shown to be consistent with antioxidant function being promoted by the structural features identified.A quantitative NO2-yellowing test is described which allows rapid determination of the yellowing indices (OUYI) of test compounds. The results support the use of kojic acid and maltol as alternatives to BHT.An investigation of kojic acid indicates that it is both nitrosated by gaseous NO2, and undergoes a complicated series of reactions. Investigations with 3-methylcyclopentane-1,2-dione confirm that cychc 1,2-diones both reduce and trap gaseous NO2, a possible strategy for reducing yellowing.The foregoing studies indicate possible structural requirements for a NO2yellowing antioxidant and the synthesis of several N-(3,5-di-r-butyl-4-hydroxyphenyl) cyclic imides has been accomplished. This has provided a group of new compounds which show similar antioxidant activity to BHT, but are less prone to NO2-yellowing than 4-substituted hindered phenols possessing labile hydrogen atoms. Studies on the solvolysis of these cyclic imide compounds suggest that sufficient stability to obtain a commercially useful antioxidant may be imparted by the bulky alkyl substituents in the imide ring, as in the case of N-(3,5-di-f-butyl-4-hydroxyphenyl)-3,3-dimethylglutarimide and N-(3,5-di-tbutyl-4-hydroxyphenyl)-2,3-diethyl-2,3-dimethylsuccinimide which have been successfully prepared
Finishing the euchromatic sequence of the human genome
- Author
- . Haifeng
- . Magner
- . Yin
- Abbott Scott
- Abbott-Ozersky Amanda
- Abdellah Zahra
- Abouelleil Amr
- Abrajano Anne
- Adachi Tamami
- Adam Catherine
- Adams Charles Q.
- Adamson Aaron
- Adekoya Emmanuel
- Adio-Oduola Babajide
- Aerts Andrea
- Aggarwal Arun
- Ahmadi Alireza
- Ahmed Shahana
- Aimable Matthew
- Ainscough Rachael
- Ait-Zahra Mostafa
- Aizu Tomoyuki
- Alcivare Dana
- Alegria Michelle
- Ali Alla
- Ali Johar
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- Lowenstein Michael G.
- Lowry Stephen
- Lozado Ryan J.
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- Lucier Raymond L.
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- Madabhushi Ramki
- Madu Renita C.
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- Murayama Yuji
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- Nwokenkwo Stanley
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- Olson Maynard V.
- Omotosho Bamidele
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- Qin Xiang
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- Quiles Miyo M.
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- Sonnhammer Erik
- Sonnhammer Erik
- Sorelle Richard P.
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- Stalvey Malinda
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- Subramanian Sandhya
- Sudbrak Ralf
- Sugnet Charles W.
- Sulston John
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- Sun Min
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- Sun Yu
- Sun Yue
- Sutherland Grant R.
- Sutherland Robert D.
- Sutton Angelica E.
- Svatek Amanda F.
- Svetz Jessica
- Svetz Leah Anne
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- Sycamore Neil
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- Tatum Owatha I.
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- Tian Chaoguang
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- Tice Hope
- Tighe Damon
- Tin-Wollam Aye M.
- Tinsley Emma
- Tochigi Miwako
- Togashi Naoko
- Tomizawa Iori
- Tomlinson Chad
- Tong Jingli
- Topham Kerri
- Torcaso Bill
- Torney David C.
- Totoki Yasushi
- Towey Sarah
- Toyoda Atsushi
- Tracey Alan
- Tran Ly Thanh
- Tran-Gyamfi Mary
- Trani Lee
- Trankiem Margie
- Trask Barbara J.
- Travers Johnathan
- Trejos Zulma Y.
- Treuhaft Marianne
- Trevino Brenda Kaye
- Tromans Anthony
- Trong Stephan
- Trumbower Heather
- Tsai Ming
- Tsamla Tsamla
- Tsolas Jason
- Tsomo Nawang
- Tsujimoto Susan
- Tsukamoto Yumi
- Tsuruoka Hiromi
- Tsuzuki Rina
- Tu Yuefeng
- Tu Yuefeng
- Tubby Ben
- Tufarelli Cristina
- Turner Heidi
- Turney Kathryn
- Tynan Katherine
- Ueland Stephanie
- Ueng Samantha
- Ukegbu Ogechi Nkemdirim
- Ulanovsky Levy E.
- Un Chun
- Ung Quyen
- Upson Darren
- Urban Jeremy B.
- Ureta-Vidal Abel
- Ureta-Vidal Abel
- Usmani Kamran
- Ustaszewska Anna
- Uyama Nozomi
- Valas Ruben E.
- Valdez Michelle
- Valle Duane
- Valles Yvonne
- Van Brunt Andrew
- Van Dilla Marvin
- Van Helmond Zoe
- Van Luchene Ryan
- Vardanian Zachary
- Vargas Michelle
- Vargo Charles E.
- Vartanian Steffan
- Vasquez Lydia I.
- Vassiliev Helen
- Vastrik Imre
- Vaudin Mark
- Veil Rose
- Veklerov Eugene
- Velasco Nelson
- Velasquez Lisa
- Venkataranan Vijay
- Vera Virginia A.
- Verduzco Daniel
- Vergez Lisa
- Vico Virginie
- Viknaraja Ramya
- Villasana Donna M.
- Vine Wendy
- Viswanathan Vijay
- Vo Andy
- Vo Nu
- Voak Paul
- Vollenhoven David
- Wada Hiromi
- Wagner Mark
- Wagner-McPherson Caryn
- Waldron Lenee
- Waligorski Jason E.
- Walker Davian L.
- Walker Keya
- Walker Sarah
- Wall Melanie
- Wall Randy E.
- Wallace John
- Wallis Justine
- Wallis Michelle
- Walsh Jennifer
- Walsham Natalie
- Wan Ma
- Wang Chunyan
- Wang Dong
- Wang Feng
- Wang Guangxin
- Wang Guihai
- Wang Guihai
- Wang Hongjuan
- Wang Hongwei
- Wang Huanjie
- Wang Huifeng
- Wang Huifeng
- Wang Jian
- Wang Jian
- Wang Jian
- Wang Jie
- Wang Jing
- Wang Jingqiang
- Wang Jingqiang
- Wang Jinhua
- Wang Joann
- Wang Juan
- Wang Jun
- Wang Jun
- Wang Jun
- Wang Li
- Wang Lijie
- Wang Lijuan
- Wang Lijun
- Wang Ling
- Wang Liqun
- Wang Mei
- Wang Qiaoyan
- Wang Shifen
- Wang Shu
- Wang Suzhen
- Wang Wenjun
- Wang Xiaoling
- Wang Xiaoning
- Wang Xuefei
- Wang Xuegang
- Wang Yan
- Wang Yimin
- Wang Ying
- Wang Ying
- Wang Yuanyuan
- Wangchuck Tsering
- Wangdi Tsering
- Ward-Moore Stephanie
- Warren Graham
- Warren James T.
- Warry Georgina
- Watanabe Hidemi
- Watanabe Saki
- Waterston Robert H.
- Watson Andy
- Watt Nicola
- Webb Anthony
- Webb Jeannette
- Webber Caleb
- Weber Ryan J.
- Wehri Edward
- Wei Shulin
- Wei Xuehong
- Weidenbach Richard
- Weinstock George
- Weinstock Keith
- Weir John
- Weissenbach Jean
- Wells Alan
- Wells Sarah
- Welton Robert
- Wen Gaiping
- Wendi Mike
- Weng Li
- Wenning Sarah
- Wentz Sara
- Werler Daniela
- Wesley Mary Melissa
- West Paul
- West Tony
- Wetterstrand Kris
- Wheatley Angela
- Wheatley Carl
- Wheeler David A.
- Wheeler Gideon
- Wheeler Jeremy
- Whitaker Hayley
- White Adam
- White Amelia
- White Brian
- White Catherine
- White Flower
- White Jennifer
- White Johnathon
- White P. Scott
- White Scott P.
- White Simon
- Whitehead Sally
- Whiteley Matthew
- Whitmore Scott
- Whittaker Adam
- Whittaker Charles
- Whittaker Pamela
- Wickremasinghe Manosha I.
- Widaa Sara
- Wiegel Sarah
- Wild Anna
- Wilkinson Jane
- Wilkinson Jane
- Wilkinson Paul
- Willey David
- Williams Albert L.
- Williams Andy
- Williams Bill
- Williams Gabrielle A.
- Williams Leanne
- Williamson Angela L.
- Williamson Helen
- Wills Patricia L.
- Wills Richard
- Wilmer Tamsin
- Wilming Laurens
- Wilson Brian
- Wilson Gareth
- Wilson Margaret
- Wilson Nyree
- Wilson Piers
- Wilson Richard K.
- Wilson Siobhan
- Wilson Steve
- Wilson Wendy
- Wincker Patrick
- Window Philip
- Winster Jenny
- Winzar Claire
- Witt James
- Wleczyk Regina
- Wobus Fred
- Woessner Jeffrey
- Wohldmann Patty
- Wollard Jessica
- Womack Andrew W.
- Wong Benjamin
- Wong Gane K-S
- Wood Diane
- Wood Emma
- Wood Joe
- Wooden Hailey S.
- Wooden Steven H.
- Woodeson Sharon
- Woodfine Kathryn
- Woodmansey Rebecca
- Woods Eric
- Woodwark Cara
- Wooster Richard
- Worley Kim Carlyle
- Woyke Tanja
- Wray Matthew
- Wray Paul
- Wright Charmain
- Wright Debbie
- Wright Kathrine
- Wright Kristin
- Wright Rita A.
- Wu Chungen
- Wu Dongying
- Wu Jiaqian
- Wu Jung-Rung
- Wu Kevin
- Wu Qingfa
- Wu Qingfa
- Wu Ruiming
- Wu Xiao
- Wu Xiaojing
- Wu Zaining
- Wyatt Julia
- Wycoff-Montenegro Melissa
- Wylie Kris
- Wyman Dudley
- Wyman Stacia
- Xi Yan
- Xi Yingying
- Xie Fei
- Xie Gary
- Xie Jane
- Xiong Hui
- Xiong Yuqing
- Xu Alex
- Xu Jing
- Xu Jing
- Xu Ruqin
- Xu Shuhua
- Xu Wei
- Xu Xinlai
- Xu Yan
- Xu Yuning
- Xu Zhihong
- Xu Zuyuan
- Xuan Yali
- Xuan Zhenyu
- Xue Rui
- Yada Tetsushi
- Yadav Shailendra
- Yakub Syed
- Yamamoto Lynn
- Yamamoto Noriko
- Yamamoto Yuko
- Yamashita Yasue
- Yamazaki Satoru
- Yang Hao
- Yang Huanming
- Yang Huanming
- Yang Joan
- Yang Shiaw-Pyng
- Yang Shudong
- Yang Xiaonan
- Yang Xiaonan
- Yang Xiaoping
- Yang Yongkui
- Yano Candance
- Yao Zhijian
- Yao Zhijian
- Yaspo Marie-Laure
- Ye Chen
- Yeager Shane
- Yeh Mimi
- Yen Jennifer
- Yeshitela Rahel Retta
- Yoakum Martin
- Yokobata Kathy
- Yokoyama Jennifer
- Yonezawa Miho
- Yoon Lillienne
- Yoon Vivienne
- Yoshida Satoru
- You Bo
- Young Geneva
- Young Louise
- Young Shelia
- Younger Ruth
- Yu Bing
- Yu Charles
- Yu Fuli
- Yu Jun
- Yu Jun
- Yu Jun
- Yuan Kaiwen
- Yuan Ye
- Yuan Yida
- Yue Shujie
- Yumae Brian
- Yun Rui
- Zainoun Joanne
- Zembeck Lisa
- Zeng Yixin
- Zhai Dong
- Zhan Guoping
- Zhang Bo
- Zhang Caimin
- Zhang Fengmei
- Zhang Guangyu
- Zhang Guohua
- Zhang Guohua
- Zhang Haiqing
- Zhang Haiqing
- Zhang Haiqing
- Zhang Hongbo
- Zhang Hongbo
- Zhang Jingjing
- Zhang Jingjing
- Zhang Jingkun
- Zhang Jiuchun
- Zhang Jiuchun
- Zhang Lanzhi
- Zhang Li
- Zhang Li
- Zhang Meihua
- Zhang Meng
- Zhang Ming
- Zhang Qing
- Zhang Ruhua
- Zhang Shaojie
- Zhang Tiezhen
- Zhang Wei
- Zhang Wei
- Zhang Xianglin
- Zhang Xianglin
- Zhang Xiaoliang
- Zhang Xiuqing
- Zhang Yan
- Zhang Yi
- Zhang Yilin
- Zhang Yilin
- Zhang Ying
- Zhang Yuansen
- Zhang Yuzhi
- Zhang Zhengdong
- Zhao Hongmei
- Zhao Lijian
- Zhao Shenru
- Zhao Zhijing
- Zhen Zhicheng
- Zheng Haibo
- Zhong Ming
- Zhou Carol
- Zhou Haixia
- Zhou Jianling
- Zhou Nannan
- Zhou Xinfeng
- Zhou Yan
- Zhou Yang
- Zhou Yi
- Zhu Bingying
- Zhu Bofeng
- Zhu Fenghua
- Zhu Genfeng
- Zhu Genfeng
- Zhu Miao
- Zhu Ning
- Zhu Yongge
- Zhu Zhen
- Zhuang Shitao
- Zierten Deborah
- Zimmer Andrew
- Zody Michael C.
- Zollo Massimo
- Zorrilla Sara E.
- Zuo Lin
- Publication venue
- LSU Digital Commons
- Publication date
- 21/10/2004
- Field of study
The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead
GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements
- Author
- Adlard Julian
- Ahmed Munaza
- Aich Anshul
- Aitman Tim
- Alachkar Hana
- Alle Hana Lango
- Allsup David
- Almeida-King Jeff
- Ambrose J. C.
- Amin Aliya S.
- Ancliff Philip
- Antrobus Richard
- Armstrong Ruth
- Arno Gavin
- Arumugam P.
- Ashford Sofie
- Astle William
- Attwood Anthony
- Babbs Chris
- Bakchoul Tamam
- Bariana Tadbir
- Barwell Julian
- Bennett David
- Bentley David
- Bevers R.
- Bierzynska Agnieszka
- Biss Tina
- Bleda M.
- Bleda Marta
- Boardman-Pretty F.
- Bogaard Harm
- Bourne Christian
- Boustred C. R.
- Boyce Sara
- Bradley John
- Breen Gerome
- Brennan Paul
- Brewer Carole
- Brittain H.
- Brod Naomi Clements
- Brown M. A.
- Brown Matthew
- Browning Michael
- Buchan Rachel
- Buckland Matthew
- Bueser Teofila
- Burns Siobhan
- Burren Oliver
- Calleja Paul
- Carr-White Gerald
- Carss Keren
- Casey Ruth
- Caulfield M. J.
- Caulfield Mark
- Cebola Inês
- Chambers Jennifer
- Chambers Jenny
- Chambers John
- Chan G. C.
- Chan Melanie M. Y.
- Cheng Floria
- Chinnery Patrick F.
- Christian Martin
- Church Colin
- Coghlan Gerry
- Colby Elizabeth
- Cole Trevor
- Collins Janine
- Collins Peter
- Colombo Camilla
- Condliffe Robin
- Cook Stuart
- Cook Terry
- Cooley Sharon
- Cooper Nichola
- Corris Paul
- Crisp-Hihn Abigail
- Curry Nicola
- Danesino Cesare
- Daniels Matthew
- Daugherty Louise
- Davis John
- Deevi Sri V. V.
- Dent Timothy
- Dewhurst Eleanor
- Dixon Peter
- Dixon Peter H.
- Donnelly Jennifer
- Downes Kate
- Drazyk Anna
- Drewe Elizabeth
- Dutt Tina
- Edgar David
- Edwards Karen
- Egner William
- Erber Wendy
- Erwood Marie
- Estiu Maria C.
- Estiu Maria Cecilia
- Evans Dafydd Gareth
- Evans Gillian
- Everington Tamara
- Eyries Mélanie
- Favier Remi
- Fletcher Debra
- Fowler T.
- Fox James
- Frary Amy
- French Courtney
- Freson Kathleen
- Frontini Mattia
- Gale Daniel
- Gale Daniel P.
- Gall Henning
- Geary Michael
- Geoghegan Claire
- Gerighty Terry
- Ghio Stefano
- Ghofrani Hossein-Ardeschir
- Gibbs Simon
- Giess A.
- Gilmour Kimberley
- Girerd Barbara
- Goddard Sarah
- Gomez Keith
- Gordins Pavels
- Gosal David
- Grassi Luigi
- Greene Daniel
- Greenhalgh Lynn
- Greinacher Andreas
- Gresele Paolo
- Griffiths Philip
- Grigoriadou Sofia
- Grocock Russell
- Grozeva Detelina
- Gräf Stefan
- Hackett Scott
- Hadinnapola Charaka
- Hague William
- Hague William M.
- Haimel Matthias
- Hall Matthew
- Hamblin A.
- Hanson Helen
- Harkness Kirsty
- Harper Andrew
- Harris Claire
- Hart Daniel
- Hassan Ahamad
- Hayman Grant
- Henderson Alex
- Henderson S.
- Hoffmann Jonathan
- Horvath Rita
- Houweling Arjan
- Howard Luke
- Hu Fengyuan
- Hubbard T. J. P.
- Hudson Gavin
- Hughes Joseph
- Huissoon Aarnoud
- Humbert Marc
- Humphray Sean
- Hunter Sarah
- Hurles Matthew
- Izatt Louise
- Jackson R.
- James Roger
- Johnson Sally
- Jolles Stephen
- Jolley Jennifer
- Jones L. J.
- Jurkute Neringa
- Kasanicki Mary
- Kasperaviciute D.
- Kayikci M.
- Kazkaz Hanadi
- Kazmi Rashid
- Kelleher Peter
- Kiely David
- Kingston Nathalie
- Klima Robert
- Kostadima Myrto
- Kousathanas A.
- Kovacs Gabor
- Koziell Ania
- Kreuzhuber Roman
- Kuijpers Taco
- Kumar Ajith
- Kumararatne Dinakantha
- Kuria Manju
- Laffa Michael
- Lahnstein L.
- Lalloo Fiona
- Lamber Michele
- Lawrie Allan
- Layton Mark
- Leigh S. E. A.
- Lentaigne Claire
- Leong I. U. S.
- Levine Adam
- Levine Adam P.
- Linger Rachel
- Longhurst Hilary
- Lopez F. J.
- Louka Eleni
- Madan Bella
- Maher Eamonn
- Maimaris Jesmeen
- Maleady-Crowe F.
- Mangles Sarah
- Mapeta Rutendo
- Marchbank Kevin
- Marks Stephen
- Markus Hugh S.
- Marschall Hanns-Ulrich
- Marshall Andrew
- Martin Jennifer
- Mathias Mary
- Matthews Emma
- Maude Hannah
- Maxwell Heather
- McAlinden Paul
- McCarthy Mark
- McEntagart M.
- Meacham Stuart
- Mead Adam
- Megy Karyn
- Mehta Sarju
- Michaelides Michel
- Millar Carolyn
- Minneci F.
- Mitchell Alice L.
- Moledina Shahin
- Montani David
- Moor Tony
- Morrell Nicholas
- Moutsianas L.
- Mozere Monika
- Mueller M.
- Muir Keith
- Mumford Andrew
- Murugaesu N.
- Need A. C.
- Newnham Michael
- Nicolaides Kypros
- Noordegraaf Anton Vonk
- O'Donovan P.
- O'Sullivan Jennifer
- Obaji Samya
- Odhams C. A.
- Okoli Steven
- Olschewski Andrea
- Olschewski Horst
- Ong Kai Ren
- Ormondroy Elizabeth
- Ouwehan Willem
- Papadi Sofia
- Park Soo-Mi
- Parry David
- Patch C.
- Paterson Joan
- Peacock Andrew
- Peden John
- Peerlinck Kathelijne
- Penkett Christopher
- Pepke-Zaba Joanna
- Pereira M. B.
- Perez-Gil D.
- Petersen Romina
- Pullinger J.
- Pyle Angela
- Rahim T.
- Rankin Stuart
- Rao Anupama
- Raymond F. Lucy
- Rayner-Matthew Paula
- Rees Christine
- Rendon A.
- Rendon Augusto
- Renton Tara
- Rice Andrew
- Richardson Sylvia
- Richter Alex
- Roberts Irene
- Rogers T.
- Ross Robert MacKenzie
- Roughley Catherine
- Roy Noemi
- Sadeghi-Alavijeh Omid
- Saleem Moin
- Samani Nilesh
- Sanchis-Juan Alba
- Sargur Ravishankar
- Satchell Simon
- Savage K.
- Savic Sinisa
- Sawant K.
- Scelsi Laura
- Schulman Sol
- Scott R. H.
- Scully Marie
- Searle Claire
- Seeger Werner
- Sewell Carrock
- Seyres Denis
- Shapiro Susie
- Sharmardina Olga
- Shtoyerman Rakefet
- Sibson Keith
- Siddiq A.
- Side Lucy
- Sieghart A.
- Simeoni Ilenia
- Simpson Michael
- Sivapalaratnam Suthesh
- Skytte Anne-Bine
- Smith Katherine
- Smith Kenneth G. C.
- Smith S. C.
- Snape Katie
- Sosinsky A.
- Soubrier Florent
- Staines Simon
- Staples Emily
- Stark Hannah
- Stephens Jonathan
- Stirrups Kathleen
- Stock Sophie
- Stuckey A.
- Suntharalingam Jay
- Swietlik Emilia
- Syngelaki Argyro
- Tait R. Campbell
- Talks Kate
- Tan Rhea
- Tanguy M.
- Taylor Tavares A. L.
- Thaventhiran James
- Themistocleous Andreas
- Thomas E. R. A.
- Thomas Moira
- Thompson S. R.
- Thomson Kate
- Thorsell Malin
- Thrasher Adrian
- Thys Chantal
- Tischkowitz Marc
- Titterton Catherine
- Toh Cheng-Hock
- Toshner Mark
- Traylor Matthew
- Treacy Carmen
- Trembath Richard
- Tucci A.
- Tuna Salih
- Turek Wojciech
- Turro Ernest
- Vale Tom
- Van Geet Chris
- Van Zuydam Natalie
- Vazquez-Lopez Marta
- von Ziegenweidt Julie
- Waisfisz Quintin
- Walker Suellen
- Ware James
- Watkins Hugh
- Watt Christopher
- Webster Andrew
- Wei Wei
- Welch Steven
- Welland M. J.
- Wessels Julie
- Westbury Sarah
- Westwood John-Paul
- Wharton John
- Whitehorn Deborah
- Whitworth James
- Wilkins Martin R.
- Williams E.
- Williamson Catherine
- Witkowska K.
- Wong Edwin
- Wood Nicholas
- Wood S. M.
- Wood Yvette
- Woods Geoff
- Woodward Emma
- Wort Stephen
- Worth Austen
- Yates Katherine
- Yong Patrick
- Young Tim
- Yu Ping
- Yu-Wai-Man Patrick
- Zhang Jun
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 17/08/2022
- Field of study
Intrahepatic cholestasis of pregnancy (ICP) is a pregnancy-specific liver disorder affecting 0.5–2% of pregnancies. The majority of cases present in the third trimester with pruritus, elevated serum bile acids and abnormal serum liver tests. ICP is associated with an increased risk of adverse outcomes, including spontaneous preterm birth and stillbirth. Whilst rare mutations affecting hepatobiliary transporters contribute to the aetiology of ICP, the role of common genetic variation in ICP has not been systematically characterised to date. Here, we perform genome-wide association studies (GWAS) and meta-analyses for ICP across three studies including 1138 cases and 153,642 controls. Eleven loci achieve genome-wide significance and have been further investigated and fine-mapped using functional genomics approaches. Our results pinpoint common sequence variation in liver-enriched genes and liver-specific cis-regulatory elements as contributing mechanisms to ICP susceptibility
Integrated Synthesis and Testing of Substituted Xanthine Based DPP4 Inhibitors: Application to Drug Discovery
- Author
- Adrian G. Wright (1927462)
- Bimbisar Desai (1927453)
- Christopher N. Selway (1927459)
- David M. Parry (1927441)
- Elizabeth Farrant (1927444)
- Gary J. Tarver (1927447)
- Jüergen Dedio (1927435)
- Karen Dixon (1927438)
- Manoj K. Ramjee (1927432)
- Qixing Feng (1927456)
- Thorsten Schmidt (5598)
- Trevor Morgan (1927450)
- Werngard Czechtizky (1585198)
- Publication venue
- Publication date
- Field of study
A novel
integrated discovery platform has been used to synthesize
and biologically assay a series of xanthine-derived dipeptidyl peptidase
4 (DPP4) antagonists. Design, synthesis, purification, quantitation,
dilution, and bioassay have all been fully integrated to allow continuous
automated operation. The system has been validated against a set of
known DPP4 inhibitors and shown to give excellent correlation between
traditional medicinal chemistry generated biological data and platform
data. Each iterative loop of synthesis through biological assay took
two hours in total, demonstrating rapid iterative structure–activity
relationship generation
Rapid Discovery of a Novel Series of Abl Kinase Inhibitors by Application of an Integrated Microfluidic Synthesis and Screening Platform
- Author
- Adrian G. Wright (1927462)
- Bimbisar Desai (1927453)
- Christopher N. Selway (1927459)
- David M. Parry (1970773)
- Elizabeth Farrant (1927444)
- Gary J. Tarver (1927447)
- Gavin Whitlock (1970776)
- James Mills (353589)
- Karen Dixon (1927438)
- Karl R. Gibson (1262118)
- Manoj K. Ramjee (1927432)
- Qixing Feng (1927456)
- Trevor Morgan (1927450)
- Willem P. van Hoorn (1970770)
- Publication venue
- Publication date
- Field of study
Drug
discovery faces economic and scientific imperatives to deliver
lead molecules rapidly and efficiently. Using traditional paradigms
the molecular design, synthesis, and screening loops enforce a significant
time delay leading to inefficient use of data in the iterative molecular
design process. Here, we report the application of a flow technology
platform integrating the key elements of structure–activity
relationship (SAR) generation to the discovery of novel Abl kinase
inhibitors. The platform utilizes flow chemistry for rapid in-line
synthesis, automated purification, and analysis coupled with bioassay.
The combination of activity prediction using Random-Forest regression
with chemical space sampling algorithms allows the construction of
an activity model that refines itself after every iteration of synthesis
and biological result. Within just 21 compounds, the automated process
identified a novel template and hinge binding motif with pIC<sub>50</sub> > 8 against Abl kinase î—¸ both wild type and clinically
relevant
mutants. Integrated microfluidic synthesis and screening coupled with
machine learning design have the potential to greatly reduce the time
and cost of drug discovery within the hit-to-lead and lead optimization
phases
On the social crisis in India: political traditions
- Author
- Ahmad Aziz.
- Ali M. Athar.
- Anderson Perry.
- Bloch Marc.
- Carstairs G. Morris.
- Chattopadhyaya B.D.
- Cipolla C.M.
- Das Gupta Jyotirindra.
- Dumont Louis.
- Fox R.G.
- Habib Mohammad.
- Hasan S. Nurul.
- Ibn Hasan.
- Ikram S.M.
- Le Goff Jacques.
- Manor James.
- Mayer Adrian.
- Minturn Leigh
- Mukhia Harbans.
- Parry J.P.
- Pearson M.N.
- Perlin Frank.
- Piltz Anders.
- Richards J.F.
- Rizvi S.A.A.
- Satish Saberwal
- Tellenbach Gerd.
- Trevor-Roper H.R.
- Tripathi R.P.
- Weber Max.
- Publication venue
- 'SAGE Publications'
- Publication date
- Field of study
Natural History collecting and the Biogeographical tradition
- Author
- Allen David
- Arnold David
- Barber Lynn
- Bayly C. A.
- Bowen Margarita
- Browne Janet
- Browne Janet
- Browne Janet
- Camerini Jane
- Cameron Ian
- Crosby Alfred W.
- Curtin Philip
- Delpar Helen
- Desmond Adrian
- Desmond Ray
- Drayton Richard
- Grove Richard
- Janet Browne
- Jardine Nicolas
- Kenneth David
- Latour Bruno
- Levere Trevor
- Livingstone David
- Livingstone David
- Lloyd Clare
- Lucas A. M.
- Mackenzie John M.
- Mackenzie John M.
- MacLeod Roy
- MacLeod Roy
- MacLeod Roy
- MacLeod Roy
- McCraken Donald P.
- Monteiro de Carvalho Anna Maria Fausto
- Nicolson Malcolm
- Parry J. H.
- Petitjean P.
- Pratt Mary Louise
- Reid Alan Scott
- Reingold Nathan
- Secord James A.
- Sheets-Pyenson Susan
- Stafford Barbara M.
- Stafford Robert A.
- Stearn William T.
- Sá Magali Romero
- Thielen Eduardo
- Thomas Keith
- Publication venue
- 'FapUNIFESP (SciELO)'
- Publication date
- 01/01/2001
- Field of study
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- Author
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- AUBERT Vilhelm
- BADURA Bernhard
- BARBOUR Rose
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- ETZIONI Amitai
- FIELD Frank
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- FUGELLI Per
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- GOFFMAN Erving
- GOLDTHORPE John H.
- GOODE William J.
- GOULDNER Alvin W.
- GOULDNER Alvin W.
- GRUNOW D.
- GUNDERSTEN Tom Bjørge
- HEELAS Paul
- HENDERSON Paul
- HEWITT Patricia
- HOFFMAN Lance J.
- HOMAN Roger
- HOMAN Roger
- HOUGAN J.
- ILLICH Ivan
- INTERNATIONAL COMMISSION OF JURISTS
- JENCKS Christopher
- JENCKS S.F.
- JONES Mervyn
- KERSHAW D.N.
- KJØNSTAD Asbjørn, ØYEN, Else
- KLOCKARS Carl B.
- KRINGLEN Einar
- KROMANN Kari
- KUMAR Krishan
- LASCH Christopher
- LASCH Christopher
- LATIN H.A.
- LAVIK Nils Johan
- LONSDALE Susan
- LUKES Steven
- LØCHEN Yngvar
- MACINTYRE Alasdair
- MARIN Peter
- McLACHLAN Hugh V.
- MILLS C. Wright
- MISCHEL Theodore
- MOWRER O.H.
- MOYNIHAN Daniel P.
- NISBET Robert N.
- O'BRIEN Mary
- OFSHE Richard
- OUTER CIRCLE POLICY UNIT
- PARRY Odette
- RAAUM Odd
- REIN Martin
- REYNOLDS Paul Davidson
- RIEFF Philip
- ROBERTSON Roland
- ROBERTSON Roland
- ROBINSON David
- ROSEN R.D.
- ROSENBERG Jerry M.
- ROSZAK Theodore
- SCHUR Edwin
- SENNETT Richard
- SHILS Edward
- SHILS Edward A.
- SHILS Edward Albert
- SHILS Edward Albert
- SHOTTER John
- SIDEL V.W.
- SIMMEL Arnold
- SIMMEL Georg
- SJOBERG Gideon
- SJOBERG Gideon
- STACY Margaret
- STEUDLER F.
- STONE Donald
- TOREN Nina
- TORGERSEN Ulf
- TOURAINE Alain
- TOURAINE Alain
- TOURAINE Alain
- TOURAINE Alain
- TOWNSEND Peter
- USEEM M.
- WALLIS Roy
- WARE Willis H.
- WEBB Adrian
- WEDDERBURN Dorothy
- WESTERGAARD John
- WESTIN Alan F.
- WHEELER S.
- WRONG Dennis
- WUTHNOW Robert
- YOUNG J.C.
- YOUNGER Kenneth
- ZARETSKY Eli
- ØYEN Else
- ØYEN Else
- ØYEN Else
- ØYEN Else
- ØYEN Else
- ØYEN Else
- ØYEN Ørjar
- Publication venue
- 'SAGE Publications'
- Publication date
- Field of study
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort (Nature, (2020), 583, 7814, (90-95), 10.1038/s41586-020-2265-1)
- Author
- Abbs Stephen
- Adhya Zoe
- Adlard Julian
- Afzal Maryam
- Ahmed Irshad
- Ahmed Munaza
- Ahmed Saeed
- Aitman Timothy J.
- Alachkar Hana
- Alamelu Jayanthi
- Alikhan Raza
- Allen Carl E.
- Allen Louise
- Allsup David J.
- Alvi Arif
- Ambegaonkar Gautam
- Anantharachagan Ariharan
- Ancliff Philip
- Anderson Julie
- Antrobus Richard
- Armstrong Ruth
- Arno Gavin
- Arumugakani Gururaj
- Arya Rita
- Ashford Sofie
- Astle William J.
- Attwood Anthony
- Austin Steve
- Aydinok Yesim
- Ayub Waqar
- Babbs Christian
- Bacchelli Chiara
- Baglin Trevor
- Bakchoul Tamam
- Bariana Tadbir K.
- Barratt Jonathan
- Barwell Julian
- Baski John
- Bates Rachel W.
- Batista Joana
- Baxendale Helen E.
- Baxendale Helen E.
- Baynam Gareth
- Bennett David L.
- Bethune Claire
- Bhatnagar Neha
- Bibi Shahnaz
- Bierzynska Agnieszka
- Biss Tina
- Bitner-Glindzicz Maria A.K.
- Bleda Marta
- Blesneac Iulia
- Boardman Barbara
- Boddana Preetham
- Bogaard Harm J.
- Booth Claire
- Boschann Felix
- Boyce Sara
- Bradley John R.
- Brady Angela
- Breen Gerome
- Brennan Paul
- Brewer Carole
- Briley Annette
- Brod Naomi Clements
- Brown Matthew
- Brown Matthew
- Brown Richard
- Browning Michael J.
- Brownlie Mary
- Bryson Christine J.
- Buchan Rachel J.
- Buck Jackie
- Buckland Matthew S.
- Buckland Matthew S.
- Bueser Teofila
- Burns Siobhan O.
- Burns Siobhan O.
- Burren Oliver S.
- Burren Oliver S.
- Calleja Paul
- Carmichael Jenny
- Carr-White Gerald
- Carss Keren J.
- Casey Ruth
- Castello Ignacio Medina
- Chalmers Elizabeth
- Chambers Jenny
- Chambers John
- Chan Melanie M.Y.
- Chan Melissa V.
- Chandra Anita
- Chandra Anita
- Cheng Floria
- Chinn Ivan K.
- Chinnery Patrick F.
- Chitre Manali
- Chong Sam
- Christian Martin T.
- Church Colin
- Clement Emma M.
- Clifford Hayley
- Clowes Virginia E.
- Coghlan Gerry
- Colby Elizabeth
- Cole Trevor R.P.
- Collins Janine H.
- Collins Peter W.
- Condliffe Robin
- Cook H. Terence
- Cook Stuart
- Cookson Victoria
- Cooper Nichola
- Cooper Nichola
- Corris Paul A.
- Creaser-Myers Amanda
- Crisp-Hihn Abigail
- Curry Nicola S.
- Cutler Antony J.
- Cutler Antony J.
- Da Costa Rosa
- Danesino Cesare
- Daniels Matthew J.
- Darby Damaris
- Daugherty Louise C.
- Davies E. G.
- Davies Sophie
- Davis John
- de Bree Godelieve J.
- Deacock Sarah
- Deegan Patrick B.
- Deevi Sri V.V.
- Deevi Sri V.V.
- Dempster John
- Dent Timothy
- Deshpande Charu
- Devlin Lisa A.
- Dewhurst Eleanor F.
- Dixit Anand K.
- Dixon Peter H.
- Diz Carmen Bugarin
- Doffinger Rainer
- Dolling Helen
- Dormand Natalie
- Downes Kate
- Drazyk Anna M.
- Drewe Elizabeth
- Duarte Daniel
- Dutt Tina
- Edgar J. David M.
- Edgar J. David M.
- Edwards Karen E.
- Egner William
- Ekani Melanie N.
- El-Shanawany Tariq
- Elkhalifa Shuayb
- Ellinghaus David
- Ellinghaus Eva
- Elston Tony
- Emmerson Ingrid
- Erber Wendy N.
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- Estiu Maria C.
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- Gattens Michael
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- Ghurye Rohit
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- Hackett Scott J.
- Hadden Robert D.M.
- Hadeler Silvia Lucato
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- Haimel Matthias
- Hall Matthew
- Halmagyi Csaba
- Hammerton Tracey
- Hanson Helen L.
- Hanson Steven
- Harkness Kirsty
- Harper Andrew R.
- Harper Lorraine
- Harris Claire
- Harrison Claire
- Hart Daniel
- Hassan Ahamad
- Hayman Grant
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- Hegde Shivaram
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- Hensiek Anke
- Henskens Yvonne M.C.
- Herwadkar Archana
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- Jurkute Neringa
- Karim Yousuf M.
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- Makris Mike
- Mangles Sarah
- Manson Ania
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- Megy Karyn
- Megy Karyn
- Mehta Sarju
- Mercer Catherine L.
- Michaelides Michel
- Michell Anna C.
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- Millar Hazel
- Mistry Anoop
- Moenen Floor
- Moledina Shahin
- Montani David
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- Mozere Monika
- Muir Keith W.
- Mumford Andrew D.
- Murng Sai H.K.
- Nasir Iman
- Nejentsev Sergey
- Newnham Michael
- Ng Joanne
- Ngoh Adeline
- Noorani Sadia
- Noordegraaf Anton Vonk
- Noori Muna
- Nurden Paquita
- Obaji Samya
- Okoli Steven
- Oksenhendler Eric
- Olschewski Andrea
- Olschewski Horst
- Ong Albert C.M.
- Ong Kai Ren
- Oram Helen
- Ormondroyd Elizabeth
- Othman Shokri
- Ouwehand Willem H.
- Ouwehand Willem H.
- O’Sullivan Jennifer M.
- Pantazis Antonis
- Papadia Sofia
- Papandreou Apostolos
- Park Soo Mi
- Parker Alasdair P.J.
- Parry David
- Parsons Georgina
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- Paterson Joan
- Payne Jeanette H.
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- Peerlinck Kathelijne
- Penkett Christopher J.
- Penkett Christopher J.
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- Perry David
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- Piechowski-Jozwiak Bartlomiej
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- Prasad Sanjay
- Prokopenko Inga
- Psaila Beth
- Pyle Angela
- Qasim Waseem
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- Quinti Isabella
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- Ranganathan Lavanya
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- Rao Anupama
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- Rayner-Matthews Paula J.
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- Reid Evan
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- Renton Tara
- Revel-Vilk Shoshana
- Rhodes Christopher J.
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- Richards Emma E.
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- Richardson Sylvia
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- Robert Leema
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- Rondina Matthew T.
- Rosser Elisabeth
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- Roughley Catherine
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- Sadeghi-Alavijeh Omid
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- Seneviratne Suranjith L.
- Seneviratne Suranjith L.
- Sewell W. A.Carrock
- Seyres Denis
- Shackley Fiona
- Shamardina Olga
- Shapiro Susan E.
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- Shehata Hassan A.
- Shipley Deborah
- Shtoyerman Rakefet
- Sibson Keith
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- Simeoni Ilenia
- Simeoni Ilenia
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- Sinha Manish D.
- Sivapalaratnam Suthesh
- Skytte Anne Bine
- Smith Kenneth G.C.
- Smith Kenneth G.C.
- Snape Katie
- Sneddon Linda
- Sohal Aman
- Soubrier Florent
- Southgate Laura
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- Splitt Miranda
- Staines Simon
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- Staples Emily
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- Stauss Hans
- Steele Cathal L.
- Stein Daniel
- Stein Penelope E.
- Stephens Jonathan
- Stephens Jonathan
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- Stirrups Kathleen E.
- Stock Sophie
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- Suntharalingam Jay
- Swietlik Emilia M.
- Symington Emily
- Tait R. Campbell
- Talks Kate
- Tan Rhea Y.Y.
- Taylor Gordon B.
- Thachil Jecko
- Thaventhiran James E.D.
- Thaventhiran James E.D.
- Themistocleous Andreas C.
- Thomas David C.
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- Thomas Moira J.
- Thomas Moira J.
- Thomas Patrick
- Thompson Dorothy A.
- Thomson Kate
- Thrasher Adrian J.
- Thrasher Adrian J.
- Thys Chantal
- Tilly Tobias
- Tischkowitz Marc
- Titterton Catherine
- Todd John A.
- Toh Cheng Hock
- Tool Anton T.J.
- Toshner Mark R.
- Traylor Matthew
- Treacy Carmen M.
- Treadaway Paul
- Trembath Richard C.
- Trippier Sarah
- Tuijnenburg Paul
- Tuna Salih
- Turek Wojciech
- Turro Ernest
- Turro Ernest
- Upton Paul D.
- Urniaz Rafal
- Vale Tom
- Van Geet Chris
- van Zuydam Natalie
- Vandersteen Anthony M.
- Vazquez-Lopez Marta
- Veltman Marijcke W.M.
- Vogt Julie
- von Ziegenweidt Julie
- Vora Ajay
- Vries Minka J.A.
- Wakeling Emma L.
- Walker Neil
- Walker Suellen M.
- Walsh Roddy
- Wanjiku Ivy
- Ware James S.
- Warner Timothy Q.
- Wassmer Evangeline
- Watkins Hugh
- Watson Henry G.
- Watt Christopher
- Waugh Dean
- Webb Nick
- Webster Andrew R.
- Wei Wei
- Welch Angela
- Welch Steven B.
- Werring David
- Wessels Julie
- Westbury Sarah K.
- Westwood John Paul W.
- Wharton John
- Whitehorn Deborah
- Whitworth James
- Wilkins Martin R.
- Willcocks Lisa
- Williams David J.
- Williamson Catherine
- Wong Edwin K.S.
- Wood Nicholas
- Wood Yvette
- Woods Christopher Geoffrey
- Woodward Emma R.
- Workman Sarita
- Wort Stephen J.
- Worth Austen
- Worth Austen
- Yates Katherine
- Yeatman Nigel
- Yong Patrick F.K.
- Young Timothy
- Yu Ping
- Yu-Wai-Man Patrick
- Zhang Zinan
- Zlamalova Eliska
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 06/08/2020
- Field of study
An amendment to this paper has been published and can be accessed via a link at the top of the paper
Whole-genome sequencing of patients with rare diseases in a national health system
- Author
- Abbs Stephen
- Abulhoul Lara
- Adlard Julian
- Ahmed Munaza
- Aitman Timothy J.
- Aitman Timothy J.
- Alachkar Hana
- Allen Hana Lango
- Allen Hana Lango
- Allsup David J.
- Almeida-King Jeff
- Ancliff Philip
- Antrobus Richard
- Armstrong Ruth
- Arno Gavin
- Ashford Sofie
- Ashford Sofie
- Astle William J.
- Astle William J.
- Attwood Anthony
- Aurora Paul
- Babbs Christian
- Bacchelli Chiara
- Bakchoul Tamam
- Banka Siddharth
- Bariana Tadbir
- Barwell Julian
- Batista Joana
- Baxendale Helen E.
- Beales Phil L.
- Bennett David L.
- Bennett David L.
- Bentley David R.
- Bentley David R.
- Bierzynska Agnieszka
- Biss Tina
- Bitner-Glindzicz Maria A.K.
- Black Graeme C.
- Bleda Marta
- Blesneac Iulia
- Bockenhauer Detlef
- Bogaard Harm
- Bourne Christian J.
- Boyce Sara
- Bradley John R.
- Bradley John R.
- Bragin Eugene
- Breen Gerome
- Brennan Paul
- Brewer Carole
- Brod Naomi Clements
- Brown Matthew
- Browning Andrew C.
- Browning Michael J.
- Buchan Rachel J.
- Buckland Matthew S.
- Bueser Teofila
- Burn John
- Burns Siobhan O.
- Burren Oliver S.
- Burren Oliver S.
- Burrows Nigel
- Calleja Paul
- Calleja Paul
- Campbell Carolyn
- Carr-White Gerald
- Carss Keren
- Carss Keren
- Casey Ruth
- Castello Ignacio Medina
- Caulfield Mark J.
- Caulfield Mark J.
- Chambers Jenny
- Chambers John
- Chan Melanie M.Y.
- Cheah Calvin
- Cheng Floria
- Chinnery Patrick F.
- Chinnery Patrick F.
- Chitre Manali
- Christian Martin T.
- Church Colin
- Clayton-Smith Jill
- Cleary Maureen
- Coghlan Gerry
- Colby Elizabeth
- Cole Trevor R.P.
- Collins Janine
- Collins Peter W.
- Colombo Camilla
- Compton Cecilia J.
- Condliffe Robin
- Cook H. Terence
- Cook Stuart
- Cooper Nichola
- Corris Paul A A.
- Cunningham Fiona
- Curry Nicola S.
- Cutler Antony J.
- Daniels Matthew J.
- Dattani Mehul
- Daugherty Louise C.
- Davis John
- De Soyza Anthony
- Deevi Sri V.V.
- Deevi Sri V.V.
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- Dewhurst Eleanor F.
- Dixon Peter H.
- Dixon Peter H.
- Diz Carmen Bugarin
- Douzgou Sofia
- Downes Kate
- Downes Kate
- Drazyk Anna M.
- Drewe Elizabeth
- Duarte Daniel
- Dutt Tina
- Edgar J. David M.
- Edwards Karen
- Egner William
- Ekani Melanie N.
- Elliott Perry
- Erber Wendy N.
- Erwood Marie
- Estiu Maria C.
- Evans Dafydd Gareth
- Evans Gillian
- Everington Tamara
- Eyries Mélanie
- Fassihi Hiva
- Favier Remi
- Findhammer Jack
- Fletcher Debra
- Flinter Frances A.
- Floto R. Andres
- Fowler Tom
- Fox James
- Frary Amy J.
- French Courtney E.
- Freson Kathleen
- Freson Kathleen
- Frontini Mattia
- Frontini Mattia
- Furnell Abigail
- Gale Daniel P.
- Gale Daniel P.
- Gall Henning
- Ganesan Vijeya
- Gattens Michael
- Geet Chris Van
- Geoghegan Claire
- Gerighty Terence S.A.
- Gharavi Ali G.
- Ghio Stefano
- Ghofrani Hossein Ardeschir
- Gibbs J. Simon R.
- Gibson Kate
- Gilmour Kimberly C.
- Girerd Barbara
- Gleadall Nicholas S.
- Goddard Sarah
- Goldstein David B.
- Gomez Keith
- Gordins Pavels
- Gosal David
- Graham Jodie
- Grassi Luigi
- Greene Daniel
- Greene Daniel
- Greenhalgh Lynn
- Greinacher Andreas
- Gresele Paolo
- Griffiths Philip
- Grigoriadou Sofia
- Grocock Russell J.
- Grozeva Detelina
- Gräf Stefan
- Gräf Stefan
- Gurnell Mark
- Hackett Scott
- Hadinnapola Charaka
- Hague Rosie
- Hague William M.
- Haimel Matthias
- Haimel Matthias
- Hall Matthew
- Hanson Helen L.
- Haque Eshika
- Harkness Kirsty
- Harper Andrew R.
- Harris Claire L L.
- Hart Daniel
- Hassan Ahamad
- Hayman Grant
- Henderson Alex
- Herwadkar Archana
- Hoffman Jonathan
- Holden Simon
- Horvath Rita
- Houlden Henry
- Houweling Arjan C C.
- Howard Luke S.
- Hu Fengyuan
- Hudson Gavin
- Hughes Joseph
- Huissoon Aarnoud P.
- Humbert Marc
- Humphray Sean
- Humphray Sean
- Hunter Sarah
- Hurles Matthew
- Irving Melita
- Izatt Louise
- James Roger
- James Roger
- Johnson Sally A.
- Jolles Stephen
- Jolley Jennifer
- Josifova Dragana
- Jurkute Neringa
- Karten Johannes
- Karten Tim
- Kasanicki Mary A.
- Kazkaz Hanadi
- Kazmi Rashid
- Kelleher Peter
- Kelly Anne M.
- Kelsall Wilf
- Kempster Carly
- Kiely David G.
- Kingston Nathalie
- Kingston Nathalie
- Klima Robert
- Koelling Nils
- Kostadima Myrto
- Kovacs Gabor
- Koziell Ania
- Koziell Ania
- Kreuzhuber Roman
- Kuijpers Taco W.
- Kumar Ajith
- Kumararatne Dinakantha
- Kurian Manju A.
- Laffan Michael A.
- Laffan Michael A.
- Lalloo Fiona
- Lambert Michele
- Lawrie Allan
- Layton D. Mark
- Lench Nick
- Lentaigne Claire
- Lester Tracy
- Levine Adam P.
- Levine Adam P.
- Linger Rachel
- Longhurst Hilary
- Lorenzo Lorena E.
- Louka Eleni
- Lyons Paul A.
- Machado Rajiv D.
- MacKenzie Ross Robert V.
- Madan Bella
- Maher Eamonn R.
- Maher Eamonn R.
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- Malka Samantha
- Mangles Sarah
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- Marks Stephen
- Markus Hugh S.
- Markus Hugh S.
- Marschall Hanns Ulrich
- Marshall Andrew
- Martin Jennifer
- Mathias Mary
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- Maxwell Heather
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- McCarthy Mark I.
- McKinney Harriet
- McMahon Aoife
- Meacham Stuart
- Mead Adam J.
- Megy Karyn
- Megy Karyn
- Mehta Sarju G G.
- Michaelides Michel
- Millar Carolyn
- Mohammed Shehla N.
- Moledina Shahin
- Montani David
- Moore Anthony T.
- Morales Joannella
- Morales Joannella
- Morrell Nicholas W.
- Morrell Nicholas W.
- Mozere Monika
- Muir Keith W.
- Mumford Andrew D.
- Mumford Andrew D.
- Nemeth Andrea H.
- Newman William G.
- Newnham Michael
- Noorani Sadia
- Nurden Paquita
- Obaji Samya
- Odhams Chris
- Okoli Steven
- Olschewski Andrea
- Olschewski Horst
- Ong Kai Ren
- Oram S. Â Helen
- Ormondroyd Elizabeth
- Ormondroyd Elizabeth
- Ouwehand Willem H.
- Ouwehand Willem H.
- O’Sullivan Jennifer
- Palles Claire
- Papadia Sofia
- Park Soo Mi
- Parry David
- Patel Smita
- Paterson Joan
- Peacock Andrew
- Pearce Simon H H.
- Peden John
- Peerlinck Kathelijne
- Penkett Christopher J.
- Penkett Christopher J.
- Pepke-Zaba Joanna
- Petersen Romina
- Pilkington Clarissa
- Poole Kenneth E.S.
- Prathalingam Radhika
- Psaila Bethan
- Pyle Angela
- Quinton Richard
- Rahman Shamima
- Rankin Stuart
- Rankin Stuart
- Rao Anupama
- Raymond F. Lucy
- Raymond F. Lucy
- Rayner-Matthews Paula J.
- Rees Christine
- Rendon Augusto
- Rendon Augusto
- Renton Tara
- Rhodes Christopher J.
- Rice Andrew S.C.
- Richardson Sylvia
- Richardson Sylvia
- Richter Alex
- Robert Leema
- Roberts Irene
- Roberts Irene
- Rogers Anthony
- Rose Sarah J.
- Ross-Russell Robert
- Roughley Catherine
- Roy Noemi B.A.
- Roy Noemi B. A
- Ruddy Deborah M.
- Sadeghi-Alavijeh Omid
- Saleem Moin A.
- Saleem Moin A.
- Samani Nilesh
- Samarghitean Crina
- Sanchis-Juan Alba
- Sanchis-Juan Alba
- Sargur Ravishankar B.
- Sarkany Robert N.
- Satchell Simon
- Savic Sinisa
- Sayer Genevieve
- Sayer John A.
- Scelsi Laura
- Schaefer Andrew M.
- Schulman Sol
- Scott Richard
- Scully Marie
- Searle Claire
- Seeger Werner
- Sen Arjune
- Sewell W. A.Carrock
- Seyres Denis
- Shah Neil
- Shamardina Olga
- Shamardina Olga
- Shapiro Susan E.
- Shaw Adam C.
- Short Patrick J.
- Sibson Keith
- Side Lucy
- Simeoni Ilenia
- Simpson Michael A A.
- Sims Matthew C.
- Sivapalaratnam Suthesh
- Smedley Damian
- Smith Katherine R.
- Smith Kenneth G.C.
- Smith Kenneth G.C.
- Snape Katie
- Soranzo Nicole
- Soubrier Florent
- Southgate Laura
- Spasic-Boskovic Olivera
- Staines Simon
- Staples Emily
- Stark Hannah
- Stark Hannah
- Stephens Jonathan
- Stephens Jonathan
- Steward Charles
- Stirrups Kathleen E.
- Stirrups Kathleen E.
- Stuckey Alex
- Suntharalingam Jay
- Swietlik Emilia M.
- Syrris Petros
- Tait R. Campbell
- Talks Kate
- Tan Rhea Y.Y.
- Tan Rhea Y.Y.
- Tate Katie
- Taylor Jenny C.
- Taylor John M.
- Thaventhiran James E.
- Themistocleous Andreas C.
- Themistocleous Andreas C.
- Thomas David
- Thomas Ellen
- Thomas Moira J.
- Thomas Patrick
- Thomson Kate
- Thrasher Adrian J.
- Thrasher Adrian J.
- Threadgold Glen
- Thys Chantal
- Thys Chantal
- Tilly Tobias
- Tischkowitz Marc
- Titterton Catherine
- Todd John A.
- Toh Cheng Hock
- Tolhuis Bas
- Tomlinson Ian P.
- Toshner Mark
- Traylor Matthew
- Treacy Carmen
- Treadaway Paul
- Trembath Richard
- Tuna Salih
- Tuna Salih
- Turek Wojciech
- Turro Ernest
- Turro Ernest
- Twiss Philip
- Vale Tom
- Vandekuilen Maarten
- Vandersteen Anthony M.
- Vazquez-Lopez Marta
- von Ziegenweidt Julie
- Vonk Noordegraaf Anton
- Wagner Annette
- Waisfisz Quinten
- Walker Neil
- Walker Neil
- Walker Suellen M.
- Walter Klaudia
- Ware James S.
- Watkins Hugh
- Watkins Hugh
- Watt Christopher
- Webster Andrew R.
- Webster Andrew R.
- Wedderburn Lucy
- Wei Wei
- Welch Steven B.
- Wessels Julie
- Westbury Sarah K.
- Westwood John Paul
- Wharton John
- Whitehorn Deborah
- Whitworth James
- Whitworth James
- Wilkie Andrew O. M
- Wilkins Martin R.
- Wilkins Martin R.
- Williamson Catherine
- Williamson Catherine
- Wilson Brian T.
- Wong Edwin K.S.
- Wood Nicholas
- Wood Yvette
- Woods Christopher Geoffrey
- Woodward Emma R R.
- Wort Stephen J.
- Worth Austen
- Wright Michael
- Yates Katherine
- Yong Patrick F.K.
- Young Timothy
- Yu Ping
- Yu-Wai-Man Patrick
- Zlamalova Eliska
- Zuydam Natalie van
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 02/07/2020
- Field of study
Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered1. Here we used whole-genome sequencing (WGS) in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome. We generated WGS data for 13,037 participants, of whom 9,802 had a rare disease, and provided a genetic diagnosis to 1,138 of the 7,065 extensively phenotyped participants. We identified 95 Mendelian associations between genes and rare diseases, of which 11 have been discovered since 2015 and at least 79 are confirmed to be aetiological. By generating WGS data of UK Biobank participants2, we found that rare alleles can explain the presence of some individuals in the tails of a quantitative trait for red blood cells. Finally, we identified four novel non-coding variants that cause disease through the disruption of transcription of ARPC1B, GATA1, LRBA and MPL. Our study demonstrates a synergy by using WGS for diagnosis and aetiological discovery in routine healthcare