Kristin L. Young
University of North Carolina at Chapel Hill
92 Papers
739 Citations
Kristin L. Young is an academic researcher from University of North Carolina at Chapel Hill. The author has contributed to research in topics: Biology & Genome-wide association study. The author has an hindex of 18, co-authored 66 publications. Previous affiliations of Kristin L. Young include Lund University & University of Kansas.
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Papers
Genetic analyses of diverse populations improves discovery for complex traits
Genevieve L. Wojcik,Mariaelisa Graff,Katherine K. Nishimura,Ran Tao,Jeffrey Haessler,Christopher R. Gignoux,Christopher R. Gignoux,Heather M. Highland,Yesha Patel,Elena P. Sorokin,Christy L. Avery,Gillian M. Belbin,Stephanie A. Bien,Iona Cheng,Sinead Cullina,Chani J. Hodonsky,Yao Hu,Laura M. Huckins,Janina M. Jeff,Anne E. Justice,Jonathan M. Kocarnik,Unhee Lim,Bridget M Lin,Yingchang Lu,Sarah C. Nelson,Sungshim L. Park,Hannah Poisner,Michael Preuss,Melissa A. Richard,Claudia Schurmann,Claudia Schurmann,Veronica Wendy Setiawan,Alexandra Sockell,Karan Vahi,Marie Verbanck,Abhishek Vishnu,Ryan W. Walker,Kristin L. Young,Niha Zubair,Victor Acuña-Alonso,José Luis Ambite,Kathleen C. Barnes,Eric Boerwinkle,Erwin P. Bottinger,Erwin P. Bottinger,Carlos Bustamante,Christian Caberto,Samuel Canizales-Quinteros,Matthew P. Conomos,Ewa Deelman,Ron Do,Kimberly F. Doheny,Lindsay Fernández-Rhodes,Lindsay Fernández-Rhodes,Myriam Fornage,Benyam Hailu,Gerardo Heiss,Brenna M. Henn,Lucia A. Hindorff,Rebecca D. Jackson,Cecelia A. Laurie,Cathy C. Laurie,Yuqing Li,Yuqing Li,Danyu Lin,Andrés Moreno-Estrada,Girish N. Nadkarni,Paul Norman,Loreall Pooler,Alexander P. Reiner,Jane Romm,Chiara Sabatti,Karla Sandoval,Xin Sheng,Eli A. Stahl,Daniel O. Stram,Timothy A. Thornton,Christina L. Wassel,Lynne R. Wilkens,Cheryl A. Winkler,Sachi Yoneyama,Steven Buyske,Christopher A. Haiman,Charles Kooperberg,Loic Le Marchand,Ruth J. F. Loos,Tara C. Matise,Kari E. North,Ulrike Peters,Eimear E. Kenny,Christopher S. Carlson +90 more
TL;DR: The value of diverse, multi-ethnic participants in large-scale genomic studies is demonstrated and evidence of effect-size heterogeneity across ancestries for published GWAS associations, substantial benefits for fine-mapping using diverse cohorts and insights into clinical implications are shown.
A saturated map of common genetic variants associated with human height
Loic Yengo,Sailaja Vedantam,Eirini Marouli,Julia Sidorenko,Eric Bartell,Saori Sakaue,Marielisa Graff,Anders U. Eliasen,Yunxuan Jiang,Sridharan Raghavan,Jenkai Miao,Joshua Daniel Arias,Ronen E. Mukamel,Cassandra N. Spracklen,Xianyong Yin,Shyh-Huei Chen,Teresa Ferreira,JI Yingjie,Kreete Lüll,Kuang Lin,Deborah E. Malden,Carolina Medina-Gomez,Moara Machado,Amy Moore,Sina Rüeger,Tarunveer S. Ahluwalia,Masato Akiyama,Matthew A. Allison,Marcus Alvarez,Mette K. Andersen,Alireza Ani,Vivek Appadurai,Liubov Arbeeva,Seema Bhaskar,Lawrence F. Bielak,Sailalitha Bollepalli,Lori L. Bonnycastle,Jette Bork-Jensen,Jonathan P. Bradfield,Yuki Bradford,Peter S. Braund,Jennifer A. Brody,Kristoffer Sølvsten Burgdorf,Brian E. Cade,Hui Cai,Qiuyin Cai,Archie Campbell,Marisa Cañadas-Garre,Eulalia Catamo,Jin-Fang Chai,Xiaoran Chai,Li Chang,Yipeng Chang,Chien-Hsiun Chen,Alessandra Chesi,Seung Hoan Choi,Ren-Hua Chung,Massimiliano Cocca,Maria Pina Concas,Christian Couture,Gabriel Cuellar-Partida,Rebecca D Danning,E. Warwick Daw,Frauke Degenhard,Graciela E. Delgado,Alessandro P Delitala,Ayse Demirkan,Xuan Deng,Poornima Devineni,Alexander Dietl,Maria Dimitriou,Latchezar Dimitrov,Rajkumar Dorajoo,Arif B. Ekici,Jorgen Engmann,Zammy Fairhurst-Hunter,Aliki-Eleni Farmaki,Jessica D. Faul,Juan Carlos Fernández-López,Lukas Forer,Margherita Francescatto,Sandra Freitag-Wolf,Christian Fuchsberger,Tessel E. Galesloot,Yan Gao,Zishan Gao,Frank Geller,Olga Giannakopoulou,Franco Giulianini,Anette P. Gjesing,Anuj Goel,Scott D. Gordon,Mathias Gorski,Sarah E. Graham,Jakob Grove,Xiuqing Guo,Stefan Gustafsson,Jeffrey Haessler,Thomas Hansen,Aki S. Havulinna,Simon Haworth,Jiang He,Nancy L. Heard-Costa,Prashantha Hebbar,George Hindy,Yuk-Lam Ho,Edith Hofer,Elizabeth G. Holliday,Katrin Horn,Whitney E. Hornsby,Jouke-Jan Hottenga,Hongyan Huang,Jie Huang,Alicia Huerta-Chagoya,Jennifer E. Huffman,Yi Jen Hung,Shaofeng Huo,Mi Yeong Hwang,H. Iha,Daisuke Ikeda,Masato Isono,Anne U. Jackson,Susanne Jäger,Iris E. Jansen,Ingegerd Johansson,Jost B. Jonas,Anna Jonsson,Torben Jørgensen,Ioanna P. Kalafati,Masahiro Kanai,Stavroula Kanoni,Line Lund Kårhus,Anuradhani Kasturiratne,Tomohiro Katsuya,Takahisa Kawaguchi,Rachel L. Kember,Katherine A. Kentistou,Han Na Kim,Young-Jin Kim,Marcus E. Kleber,Maria J. Knol,Azra Kurbasic,Marie Lauzon,Phuong Le,Rod A. Lea,Jong-Young Lee,Hampton L. Leonard,Shengchao A. Li,Xiaohui Li,Xiaoyin Li,Jin Liang,Honghuang Lin,Shih-Yi Lin,Jun Liu,Xueping Liu,Ken Sin Lo,Jirong Long,Laura Lorés-Motta,Jian'an Luan,Valeriya Lyssenko,Leo-Pekka Lyytikäinen,Anubha Mahajan,Vasiliki Mamakou,Massimo Mangino,Ani Manichaikul,Jonathan Marten,Manuel Mattheisen,L. Mavarani,Aaron McDaid,Karina Meidtner,Tori L. Melendez,Josep M. Mercader,Yuri Milaneschi,Jason E. Miller,Iona Y. Millwood,Pashupati P. Mishra,Ruth Mitchell,Line Tang Møllehave,Anna Morgan,Soeren Mucha,Matthias Munz,Masahiro Nakatochi,Christopher P. Nelson,Maria Nethander,Chu Won Nho,Aneta Aleksandra Nielsen,Ilja M. Nolte,Suraj S. Nongmaithem,Raymond Noordam,Ioanna Ntalla,Teresa Nutile,Anita Pandit,Paraskevi Christofidou,Katri Pärna,Marc Pauper,Eva R. B. Petersen,Liselotte Petersen,Niina Pitkänen,Ozren Polasek,Alaitz Poveda,Michael Preuss,Saiju Pyarajan,Laura M. Raffield,Hiromi Rakugi,Julia Ramirez,Asif Rasheed,Dennis Raven,Nigel W. Rayner,Carlos Riveros,Rebecca Rohde,Daniela Ruggiero,Sanni Ruotsalainen,Kathleen A. Ryan,Maria Sabater-Lleal,Richa Saxena,Markus Scholz,Anoop K. Sendamarai,Botong Shen,Jingchunzi Shi,Jae Hun Shin,Carlo Sidore,Xueling Sim,Colleen M. Sitlani,Roderick C. Slieker,Roelof A.J. Smit,Jennifer A. Smith,Laura Smyth,Lorraine Southam,Valgerdur Steinthorsdottir,Liangdan Sun,Fumihiko Takeuchi,Divya Sri Priyanka Tallapragada,Kent D. Taylor,Bamidele O. Tayo,Catherine Tcheandjieu,Natalie Terzikhan,Paola Tesolin,Alexander Teumer,Elizabeth Theusch,Deborah J. Thompson,Gudmar Thorleifsson,Paul R. H. J. Timmers,Stella Trompet,Constance Turman,Simona Vaccargiu,Sander W. van der Laan,Peter J. van der Most,Jan B. van Klinken,Jessica van Setten,Shefali S. Verma,Niek Verweij,Yogasudha Veturi,Carol A. Wang,Chaolong Wang,Lihua Wang,Zhe Wang,Helen R. Warren,Wenjie Wei,Ananda R. Wickremasinghe,Matthias Wielscher,Kerri L. Wiggins,Bendik S. Winsvold,Andrew Wong,Yang Wu,Matthias Wuttke,Rong Xi,Tian Xie,Ken Yamamoto,Jingyun Yang,Jie Yao,Hannah Young,Noha A. Yousri,Lingyao Zeng,Weihua Zhang,Xinyuan Zhang,Jing Hua Zhao,Wei Zhao,Wei Zhou,Martina E. Zimmermann,Magdalena Zoledziewska,Linda S. Adair,Hieab H.H. Adams,Carlos A. Aguilar-Salinas,Fahd Al-Mulla,Donna K. Arnett,Folkert W. Asselbergs,Bjørn Olav Åsvold,John Attia,Bernhard Banas,Stefania Bandinelli,David A. Bennett,Tobias Bergler,Dwaipayan Bharadwaj,Ginevra Biino,Hans Bisgaard,Eric Boerwinkle,Carsten A. Böger,Klaus Bønnelykke,Dorret I. Boomsma,Anders D. Børglum,Judith B. Borja,Claude Bouchard,Donald W. Bowden,Ivan Brandslund,Ben Michael Brumpton,Julie E. Buring,Mark J. Caulfield,John C. Chambers,Giriraj R. Chandak,Stephen J. Chanock,Nish Chaturvedi,Yii-Der Ida Chen,Zhengming Chen,Ching-Yu Cheng,Ingrid E. Christophersen,Marina Ciullo,John W. Cole,Francis S. Collins,Richard S. Cooper,Miguel Cruz,Francesco Cucca,L. Adrienne Cupples,Michael J. Cutler,Scott M. Damrauer,Thomas Meinertz Dantoft,Gert J. de Borst,Lisette C. P. G. M. de Groot,Philip L. De Jager,Dominique P.V. de Kleijn,H. Janaka de Silva,George Dedoussis,Anneke I. den Hollander,Shufa Du,Douglas F. Easton,Petra J. M. Elders,A. Heather Eliassen,Patrick T. Ellinor,Sölve Elmståhl,Jeanette Erdmann,Michele K. Evans,Diane Fatkin,Bjarke Feenstra,Mary F. Feitosa,Luigi Ferrucci,Ian Ford,Myriam Fornage,Andre Franke,Paul W. Franks,Barry I. Freedman,Paolo Gasparini,Christian Gieger,Giorgia Girotto,Michael E. Goddard,Yvonne M. Golightly,Clicerio González-Villalpando,Penny Gordon-Larsen,Harald Grallert,Struan F.A. Grant,Niels Grarup,Lyn R. Griffiths,Leif Groop,Vilmundur Gudnason,Christopher A. Haiman,Hakon Hakonarson,Torben Hansen,Catharina A. Hartman,Andrew T. Hattersley,Caroline Hayward,Susan R. Heckbert,Chew-Kiat Heng,Christian Hengstenberg,Alex W. Hewitt,Haretsugu Hishigaki,Carel B. Hoyng,Paul L. Huang,Wei Huang,Steven C. Hunt,Kristian Hveem,Elina Hyppönen,William G. Iacono,Sahoko Ichihara,M. Arfan Ikram,Carmen R. Isasi,Rebecca D. Jackson,Marjo-Ritta Jarvelin,Zidan Jin,Karl-Heinz Jöckel,Peter K. Joshi,Pekka Jousilahti,J. Wouter Jukema,Mika Kähönen,Yoichiro Kamatani,Kui Dong Kang,Jaakko Kaprio,Sharon L.R. Kardia,Fredrik Karpe,Norihiro Kato,Frank Kee,Thorsten Kessler,Amit Khera,Chiea Chuen Khor,Lambertus A. Kiemeney,Bong-Jo Kim,EunGyul Kim,Hyung Lae Kim,Paulus Kirchhof,M Kivimaki,Woon-Puay Koh,Heikki A. Koistinen,Genovefa Kolovou,Jaspal S. Kooner,Charles Kooperberg,Anna Köttgen,Peter Kovacs,Adriaan O. Kraaijeveld,Peter Kraft,R. Krauß,Meena Kumari,Zoltán Kutalik,Markku Laakso,Leslie A. Lange,Claudia Langenberg,Lenore J. Launer,Loic Le Marchand,Hye Jin Lee,Nanette R. Lee,Terho Lehtimäki,Huaixing Li,Liming Li,Wolfgang Liebig,Xu（林旭） Lin,Lars Lind,Allan Linneberg,Ching-Ti Liu,Jianjun Liu,Markus Loeffler,Barry London,Steven A. Lubitz,Stephen J. Lye,David A. Mackey,Reedik Mägi,Patrik K. E. Magnusson,Gregory M. Marcus,Pedro Marques Vidal,Nicholas G. Martin,Winfried März,Fumihiko Matsuda,Robert W. McGarrah,Matt McGue,Amy Jayne McKnight,Sarah E. Medland,Dan Mellström,Andres Metspalu,Braxton D. Mitchell,Paul Mitchell,Dennis O. Mook-Kanamori,Andrew D. Morris,Lorelei A. Mucci,Patricia B. Munroe,Mike A. Nalls,Saman Nazarian,Amanda E. Nelson,Matt Neville,Christopher Newton-Cheh,Christopher Sivert Nielsen,Markus M. Nöthen,Claes Ohlsson,Albertine J. Oldehinkel,Lorena Orozco,Katja Pahkala,Päivi Pajukanta,Colin N. A. Palmer,Esteban J. Parra,Cristian Pattaro,Oluf Pedersen,Craig E. Pennell,Brenda W.J.H. Penninx,Louis Pérusse,Annette Peters,Patricia A. Peyser,David J. Porteous,Danielle Posthuma,Chris Power,Peter P. Pramstaller,Michael A. Province,Qibin Qi,Jia Qu,Daniel J. Rader,Olli T. Raitakari,Sarju Ralhan,Loukianos S. Rallidis,Dabeeru C. Rao,Susan Redline,Dermot F. Reilly,Alexander P. Reiner,Sang Youl Rhee,Paul M. Ridker,Michiel Rienstra,Samuli Ripatti,Marylyn D. Ritchie,Dan M. Roden,Frits R. Rosendaal,Jerome I. Rotter,Igor Rudan,Femke Rutters,Charumathi Sabanayagam,Danish Saleheen,Veikko Salomaa,Nilesh J. Samani,Dharambir K. Sanghera,Naveed Sattar,Börge Schmidt,E. E. Schmidt,Reinhold Schmidt,Matthias B. Schulze,Heribert Schunkert,Laura J. Scott,Rodney J. Scott,Peter S. Sever,Eric J. Shiroma,M. Benjamin Shoemaker,Xiao-Ou Shu,Eleanor M. Simonsick,Mario Sims,Jai Rup Singh,Andrew B. Singleton,Moritz F. Sinner,J. Gustav Smith,Harold Snieder,Tim D. Spector,Meir J. Stampfer,Klaus Stark,David P. Strachan,Leen M 't Hart,Yasuharu Tabara,Hua Tang,Jean-Claude Tardif,Thangavel Alphonse Thanaraj,Nicholas J. Timpson,Anke Tönjes,Angelo Tremblay,Tiinamaija Tuomi,Jaakko Tuomilehto,María Teresa Tusié-Luna,André G. Uitterlinden,Rob M. van Dam,P. Van der Harst,Nathalie van der Velde,Cornelia M. van Duijn,Natasja M. van Schoor,Veronique Vitart,Uwe Völker,Peter Vollenweider,Henry Völzke,Scott I. Vrieze,Niels Wacher-Rodarte,Mark Walker,Ya Xing Wang,Nicholas J. Wareham,Richard M. Watanabe,Hugh Watkins,David R. Weir,Thomas Werge,Elisabeth Widen,Lynne R. Wilkens,Gonneke Willemsen,Walter C. Willett,James F. Wilson,Tien Yin Wong,Jeong Taek Woo,Alan F. Wright,Jer-Yuarn Wu,Huichun Xu,Chittaranjan S. Yajnik,Mitsuhiro Yokota,Jian-Min Yuan,Eleftheria Zeggini,Babette S. Zemel,Wei Zheng,Xiaofeng Zhu,Joseph M. Zmuda,Alan B. Zonderman,John-Anker Zwart,Daniel I. Chasman,Yoon Shin Cho,Iris M. Heid,Mark I. McCarthy,Maggie C.Y. Ng,Christopher J. O'Donnell,Fernando Rivadeneira,Unnur Thorsteinsdottir,Yan V. Sun,E. Shyong Tai,Michael Boehnke,Panos Deloukas,Anne E. Justice,Cecilia M. Lindgren,Ruth J. F. Loos,Karen L. Mohlke,Kari E. North,Kari Stefansson,Robin G. Walters,Thomas W. Winkler,Kristin L. Young,Po-ru Loh,Tõnu Esko,Themistocles L. Assimes,Adam Auton,Gonçalo R. Abecasis,Cristen J. Willer,Adam E. Locke,Sonja I. Berndt,Guillaume Lettre,Timothy M. Frayling,Yukinori Okada,Andrew R. Wood,Peter M. Visscher,Joel N. Hirschhorn +617 more
TL;DR: In this article , the authors show that common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40-50% of phenotypic variation in human height, but identifying the specific variants and associated regions requires huge sample sizes.
Rare and low-frequency coding variants alter human adult height
Eirini Marouli,Mariaelisa Graff,Carolina Medina-Gomez,Ken Sin Lo,Andrew R. Wood,Troels R. Kjaer,Rebecca S. Fine,Yingchang Lu,Claudia Schurmann,Heather M. Highland,Sina Rüeger,Gudmar Thorleifsson,Anne E. Justice,David Lamparter,Kathleen Stirrups,Valérie Turcot,Kristin L. Young,Thomas W. Winkler,Tõnu Esko,Tugce Karaderi,Adam E. Locke,Nicholas G. D. Masca,Maggie C.Y. Ng,Poorva Mudgal,Manuel A. Rivas,Sailaja Vedantam,Anubha Mahajan,Xiuqing Guo,Gonçalo R. Abecasis,Katja K.H. Aben,Linda S. Adair,Dewan S. Alam,Eva Albrecht,Kristine H. Allin,Matthew A. Allison,Philippe Amouyel,Emil V. R. Appel,Dominique Arveiler,Folkert W. Asselbergs,Paul L. Auer,Beverley Balkau,Bernhard Banas,Lia E. Bang,Marianne Benn,Sven Bergmann,Lawrence F. Bielak,Matthias Blueher,Heiner Boeing,Eric Boerwinkle,Carsten A. Boeger,Lori L. Bonnycastle,Jette Bork-Jensen,Michiel L. Bots,Erwin P. Bottinger,Donald W. Bowden,Ivan Brandslund,Gerome Breen,Murray H. Brilliant,Linda Broer,Amber A. Burt,Adam S. Butterworth,David J. Carey,Mark J. Caulfield,John C. Chambers,Daniel I. Chasman,Yii-Der Ida Chen,Rajiv Chowdhury,Cramer Christensen,Audrey Y. Chu,Massimiliano Cocca,Francis S. Collins,James P. Cook,Janie Corley,Jordi Corominas Galbany,Amanda J. Cox,Gabriel Cuellar-Partida,John Danesh,Gail Davies,Paul I.W. de Bakker,Gert J. de Borst,Simon de Denus,Mark C.H. De Groot,Renée de Mutsert,Ian J. Deary,George Dedoussis,Ellen W. Demerath,Anneke I. den Hollander,Joe Dennis,Emanuele Di Angelantonio,Fotios Drenos,Mengmeng Du,Alison M. Dunning,Douglas F. Easton,Tapani Ebeling,Todd L. Edwards,Patrick T. Ellinor,Paul Elliott,Evangelos Evangelou,Aliki-Eleni Farmaki,Jessica D. Faul,Mary F. Feitosa,Shuang Feng,Ele Ferrannini,Marco M Ferrario,Jean Ferrières,Jose C. Florez,Ian Ford,Myriam Fornage,Paul W. Franks,Ruth Frikke-Schmidt,Tessel E. Galesloot,Wei Gan,Ilaria Gandin,Paolo Gasparini,Vilmantas Giedraitis,Ayush Giri,Giorgia Girotto,Scott D. Gordon,Penny Gordon-Larsen,Mathias Gorski,Niels Grarup,Megan L. Grove,Vilmundur Gudnason,Stefan Gustafsson,Torben Hansen,Kathleen Mullan Harris,Tamara B. Harris,Andrew T. Hattersley,Caroline Hayward,Liang He,Iris M. Heid,Kauko Heikkilä,Øyvind Helgeland,Jussi Hernesniemi,Alex W. Hewitt,Lynne J. Hocking,Mette Hollensted,Oddgeir L. Holmen,G. Kees Hovingh,Joanna M. M. Howson,Carel B. Hoyng,Paul L. Huang,Kristian Hveem,M. Arfan Ikram,Erik Ingelsson,Anne U. Jackson,Jan-Håkan Jansson,Gail P. Jarvik,Gorm B. Jensen,Min A. Jhun,Yucheng Jia,Xuejuan Jiang,Stefan Johansson,Marit E. Jørgensen,Torben Jørgensen,Pekka Jousilahti,J. Wouter Jukema,Bratati Kahali,René S. Kahn,Mika Kähönen,Pia R. Kamstrup,Stavroula Kanoni,Jaakko Kaprio,Maria Karaleftheri,Sharon L.R. Kardia,Fredrik Karpe,Frank Kee,Renske Keeman,Lambertus A. Kiemeney,Hidetoshi Kitajima,Kirsten B. Kluivers,Thomas D. Kocher,Pirjo Komulainen,Jukka Kontto,Jaspal S. Kooner,Charles Kooperberg,Peter Kovacs,Jennifer Kriebel,Helena Kuivaniemi,Sébastien Küry,Johanna Kuusisto,Martina La Bianca,Markku Laakso,Timo A. Lakka,Ethan M. Lange,Leslie A. Lange,Carl D. Langefeld,Claudia Langenberg,Eric B. Larson,I-Te Lee,Terho Lehtimäki,Cora E. Lewis,Huaixing Li,Jin Li,Ruifang Li-Gao,Honghuang Lin,Li-An Lin,Xu Lin,Lars Lind,Jaana Lindström,Allan Linneberg,Y Liu,Yongmei Liu,Artitaya Lophatananon,Jian'an Luan,Steven A. Lubitz,Leo-Pekka Lyytikäinen,David A. Mackey,Pamela A. F. Madden,Alisa K. Manning,Satu Männistö,Gaëlle Marenne,Jonathan Marten,Nicholas G. Martin,Angela L. Mazul,Karina Meidtner,Andres Metspalu,Paul Mitchell,Karen L. Mohlke,Dennis O. Mook-Kanamori,Anna Morgan,Andrew D. Morris,Andrew P. Morris,Martina Mueller-Nurasyid,Patricia B. Munroe,Mike A. Nalls,Matthias Nauck,Christopher P. Nelson,Matt Neville,Sune F. Nielsen,Kjell Nikus,Pål R. Njølstad,Børge G. Nordestgaard,Ioanna Ntalla,Jeffrey R. O'Connel,Heikki Oksa,Loes M. Olde Loohuis,Roel A. Ophoff,Katharine R. Owen,Chris J. Packard,Sandosh Padmanabhan,Colin N. A. Palmer,Gerard Pasterkamp,Aniruddh P. Patel,Alison Pattie,Oluf Pedersen,Peggy L. Peissig,Gina M. Peloso,Craig E. Pennell,Markus Perola,James A. Perry,John R. B. Perry,Thomas N. Person,Ailith Pirie,Ozren Polasek,Danielle Posthuma,Olli T. Raitakari,Asif Rasheed,Rainer Rauramaa,Dermot F. Reilly,Alexander P. Reiner,Frida Renström,Paul M. Ridker,John D. Rioux,Neil Robertson,Antonietta Robino,Olov Rolandsson,Igor Rudan,Katherine S. Ruth,Danish Saleheen,Veikko Salomaa,Nilesh J. Samani,Kevin Sandow,Yadav Sapkota,Naveed Sattar,Marjanka K. Schmidt,Pamela J. Schreiner,Matthias B. Schulze,Robert A. Scott,Marcelo P. Segura-Lepe,Svati H. Shah,Xueling Sim,Suthesh Sivapalaratnam,Kerrin S. Small,Albert V. Smith,Jennifer A. Smith,Lorraine Southam,Tim D. Spector,Elizabeth K. Speliotes,John M. Starr,Valgerdur Steinthorsdottir,Heather M. Stringham,Michael Stumvoll,Praveen Surendran,Leen M 't Hart,Katherine E. Tansey,Jean-Claude Tardif,Kent D. Taylor,Alexander Teumer,Deborah J. Thompson,Unnur Thorsteinsdottir,Betina H. Thuesen,Anke Toenjes,Gerard Tromp,Stella Trompet,Emmanouil Tsafantakis,Jaakko Tuomilehto,Anne Tybjærg-Hansen,Jonathan Tyrer,Rudolf Uher,André G. Uitterlinden,Sheila Ulivi,Sander W. van der Laan,Andries R. van der Leij,Cornelia M. van Duijn,Natasja M. van Schoor,Jessica van Setten,Anette Varbo,Tibor V. Varga,Rohit Varma,Digna R. Velez Edwards,Sita H. Vermeulen,Henrik Vestergaard,Veronique Vitart,Thomas F. Vogt,Diego Vozzi,Mark Walker,Feijie Wang,Carol A. Wang,Shuai Wang,Yiqin Wang,Nicholas J. Wareham,Helen R. Warren,Jennifer Wessel,Sara M. Willems,James G. Wilson,Daniel R. Witte,Michael O. Woods,Ying Wu,Hanieh Yaghootkar,Jie Yao,Pang Yao,Laura M. Yerges-Armstrong,Robin Young,Eleftheria Zeggini,Xiaowei Zhan,Weihua Zhang,Jing Hua Zhao,Wei Zhao,He Zheng,Wei Zhou,Jerome I. Rotter,Michael Boehnke,Sekar Kathiresan,Mark I. McCarthy,Cristen J. Willer,Kari Stefansson,Ingrid B. Borecki,Dajiang J. Liu,Kari E. North,Nancy L. Heard-Costa,Tune H. Pers,Cecilia M. Lindgren,Claus Oxvig,Zoltán Kutalik,Fernando Rivadeneira,Ruth J. F. Loos,Timothy M. Frayling,Joel N. Hirschhorn,Panos Deloukas,Guillaume Lettre +370 more
- 01 Jan 2017
TL;DR: The results demonstrate that sufficiently large sample sizes can uncover rare and low-frequency variants of moderate-to-large effect associated with polygenic human phenotypes, and that these variants implicate relevant genes and pathways.
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Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
Valérie Turcot,Yingchang Lu,Yingchang Lu,Heather M. Highland,Heather M. Highland,Claudia Schurmann,Anne E. Justice,Rebecca S. Fine,Rebecca S. Fine,Jonathan P. Bradfield,Tõnu Esko,Tõnu Esko,Tõnu Esko,Ayush Giri,Mariaelisa Graff,Xiuqing Guo,Audrey E. Hendricks,Audrey E. Hendricks,Tugce Karaderi,Tugce Karaderi,Adelheid Lempradl,Adam E. Locke,Adam E. Locke,Anubha Mahajan,Eirini Marouli,Suthesh Sivapalaratnam,Suthesh Sivapalaratnam,Suthesh Sivapalaratnam,Kristin L. Young,Tamuno Alfred,Mary F. Feitosa,Nicholas G. D. Masca,Nicholas G. D. Masca,Alisa K. Manning,Alisa K. Manning,Carolina Medina-Gomez,Poorva Mudgal,Maggie C.Y. Ng,Alexander P. Reiner,Alexander P. Reiner,Sailaja Vedantam,Sailaja Vedantam,Sara M. Willems,Thomas W. Winkler,Gonçalo R. Abecasis,Katja K.H. Aben,Dewan S. Alam,Sameer E. Al-Harthi,Sameer E. Al-Harthi,Matthew A. Allison,Philippe Amouyel,Philippe Amouyel,Philippe Amouyel,Folkert W. Asselbergs,Folkert W. Asselbergs,Paul L. Auer,Beverley Balkau,Lia E. Bang,Inês Barroso,Inês Barroso,Lisa Bastarache,Marianne Benn,Sven Bergmann,Sven Bergmann,Lawrence F. Bielak,Matthias Blüher,Michael Boehnke,Heiner Boeing,Eric Boerwinkle,Eric Boerwinkle,Carsten A. Böger,Jette Bork-Jensen,Michiel L. Bots,Erwin P. Bottinger,Donald W. Bowden,Ivan Brandslund,Gerome Breen,Gerome Breen,Murray H. Brilliant,Linda Broer,Marco Brumat,Amber A. Burt,Adam S. Butterworth,Peter T. Campbell,Stefania Cappellani,David J. Carey,Eulalia Catamo,Mark J. Caulfield,John C. Chambers,John C. Chambers,Daniel I. Chasman,Daniel I. Chasman,Yii-Der Ida Chen,Rajiv Chowdhury,Cramer Christensen,Audrey Y. Chu,Audrey Y. Chu,Massimiliano Cocca,Francis S. Collins,James P. Cook,Janie Corley,Jordi Corominas Galbany,Amanda J. Cox,Amanda J. Cox,David S. Crosslin,Gabriel Cuellar-Partida,Gabriel Cuellar-Partida,Angela D'Eustacchio,John Danesh,John Danesh,Gail Davies,Gail Davies,Paul I.W. de Bakker,Mark C.H. De Groot,Renée de Mutsert,Ian J. Deary,Ian J. Deary,George Dedoussis,Ellen W. Demerath,Martin den Heijer,Anneke I. den Hollander,Hester M. den Ruijter,Joe Dennis,Josh C. Denny,Emanuele Di Angelantonio,Fotios Drenos,Fotios Drenos,Mengmeng Du,Mengmeng Du,Marie-Pierre Dubé,Alison M. Dunning,Douglas F. Easton,Todd L. Edwards,David Ellinghaus,Patrick T. Ellinor,Patrick T. Ellinor,Paul Elliott,Evangelos Evangelou,Evangelos Evangelou,Aliki-Eleni Farmaki,Aliki-Eleni Farmaki,I. Sadaf Farooqi,Jessica D. Faul,Sascha Fauser,Shuang Feng,Ele Ferrannini,Jean Ferrières,Jose C. Florez,Jose C. Florez,Ian Ford,Myriam Fornage,Oscar H. Franco,Andre Franke,Paul W. Franks,Paul W. Franks,Paul W. Franks,Nele Friedrich,Ruth Frikke-Schmidt,Tessel E. Galesloot,Wei Gan,Ilaria Gandin,Paolo Gasparini,Jane Gibson,Vilmantas Giedraitis,Anette P. Gjesing,Penny Gordon-Larsen,Mathias Gorski,Hans-Jörgen Grabe,Hans-Jörgen Grabe,Struan F.A. Grant,Niels Grarup,Helen Griffiths,Megan L. Grove,Vilmundur Gudnason,Stefan Gustafsson,Jeffrey Haessler,Hakon Hakonarson,Anke R. Hammerschlag,Torben Hansen,Kathleen Mullan Harris,Tamara B. Harris,Andrew T. Hattersley,Christian Theil Have,Caroline Hayward,Liang He,Liang He,Nancy L. Heard-Costa,Nancy L. Heard-Costa,Andrew C. Heath,Iris M. Heid,Øyvind Helgeland,Jussi Hernesniemi,Alex W. Hewitt,Alex W. Hewitt,Alex W. Hewitt,Oddgeir L. Holmen,G. Kees Hovingh,Joanna M. M. Howson,Yao Hu,Paul L. Huang,Jennifer E. Huffman,M. Arfan Ikram,Erik Ingelsson,Erik Ingelsson,Anne U. Jackson,Jan-Håkan Jansson,Gail P. Jarvik,Gorm B. Jensen,Yucheng Jia,Stefan Johansson,Marit E. Jørgensen,Marit E. Jørgensen,Torben Jørgensen,Torben Jørgensen,J. Wouter Jukema,Bratati Kahali,Bratati Kahali,René S. Kahn,Mika Kähönen,Pia R. Kamstrup,Stavroula Kanoni,Jaakko Kaprio,Jaakko Kaprio,Maria Karaleftheri,Sharon L.R. Kardia,Fredrik Karpe,Sekar Kathiresan,Sekar Kathiresan,Frank Kee,Lambertus A. Kiemeney,Eric Kim,Hidetoshi Kitajima,Pirjo Komulainen,Jaspal S. Kooner,Jaspal S. Kooner,Charles Kooperberg,Tellervo Korhonen,Tellervo Korhonen,Tellervo Korhonen,Peter Kovacs,Helena Kuivaniemi,Helena Kuivaniemi,Zoltán Kutalik,Zoltán Kutalik,Kari Kuulasmaa,Johanna Kuusisto,Markku Laakso,Timo A. Lakka,David Lamparter,David Lamparter,Ethan M. Lange,Leslie A. Lange,Claudia Langenberg,Eric B. Larson,Eric B. Larson,Nanette R. Lee,Terho Lehtimäki,Cora E. Lewis,Huaixing Li,Jin Li,Ruifang Li-Gao,Honghuang Lin,Keng-Hung Lin,Li-An Lin,Xu Lin,Lars Lind,Jaana Lindström,Allan Linneberg,Ching-Ti Liu,Dajiang J. Liu,Yongmei Liu,Ken Sin Lo,Artitaya Lophatananon,Andrew J. Lotery,Anu Loukola,Jian'an Luan,Steven A. Lubitz,Steven A. Lubitz,Leo-Pekka Lyytikäinen,Satu Männistö,Gaëlle Marenne,Angela L. Mazul,Mark I. McCarthy,Roberta McKean-Cowdin,Sarah E. Medland,Karina Meidtner,Lili Milani,Vanisha Mistry,Paul Mitchell,Karen L. Mohlke,Leena Moilanen,Marie Moitry,Grant W. Montgomery,Grant W. Montgomery,Dennis O. Mook-Kanamori,Carmel Moore,Trevor A. Mori,Andrew D. Morris,Andrew P. Morris,Andrew P. Morris,Martina Müller-Nurasyid,Patricia B. Munroe,Mike A. Nalls,Narisu Narisu,Christopher P. Nelson,Christopher P. Nelson,Matt Neville,Sune F. Nielsen,Kjell Nikus,Pål R. Njølstad,Børge G. Nordestgaard,Dale R. Nyholt,Dale R. Nyholt,Jeffrey R. O'Connel,Michelle L. O'Donoghue,Loes M. Olde Loohuis,Roel A. Ophoff,Roel A. Ophoff,Katharine R. Owen,Chris J. Packard,Sandosh Padmanabhan,Colin N. A. Palmer,Nicholette D. Palmer,Gerard Pasterkamp,Aniruddh P. Patel,Aniruddh P. Patel,Alison Pattie,Oluf Pedersen,Peggy L. Peissig,Gina M. Peloso,Craig E. Pennell,Markus Perola,Markus Perola,Markus Perola,James A. Perry,John R. B. Perry,Tune H. Pers,Tune H. Pers,Thomas N. Person,Annette Peters,Eva Rb Petersen,Patricia A. Peyser,Ailith Pirie,Ozren Polasek,Ozren Polasek,Tinca J. C. Polderman,Hannu Puolijoki,Olli T. Raitakari,Asif Rasheed,Rainer Rauramaa,Dermot F. Reilly,Frida Renström,Frida Renström,Myriam Rheinberger,Paul M. Ridker,John D. Rioux,Manuel A. Rivas,Manuel A. Rivas,David J. Roberts,David J. Roberts,David J. Roberts,Neil R. Robertson,Antonietta Robino,Olov Rolandsson,Igor Rudan,Katherine S. Ruth,Danish Saleheen,Veikko Salomaa,Nilesh J. Samani,Nilesh J. Samani,Yadav Sapkota,Naveed Sattar,Robert E. Schoen,Pamela J. Schreiner,Matthias B. Schulze,Robert A. Scott,Marcelo P. Segura-Lepe,Svati H. Shah,Wayne H-H Sheu,Wayne H-H Sheu,Xueling Sim,Xueling Sim,Andrew J. Slater,Kerrin S. Small,Albert V. Smith,Lorraine Southam,Lorraine Southam,Tim D. Spector,Elizabeth K. Speliotes,John M. Starr,Kari Stefansson,Kari Stefansson,Valgerdur Steinthorsdottir,Kathleen Stirrups,Kathleen Stirrups,Konstantin Strauch,Heather M. Stringham,Michael Stumvoll,Liang Sun,Liang Sun,Praveen Surendran,Amy J. Swift,Hayato Tada,Hayato Tada,Katherine E. Tansey,Katherine E. Tansey,Jean-Claude Tardif,Kent D. Taylor,Alexander Teumer,Deborah J. Thompson,Gudmar Thorleifsson,Unnur Thorsteinsdottir,Unnur Thorsteinsdottir,Betina H. Thuesen,Anke Tönjes,Gerard Tromp,Gerard Tromp,Stella Trompet,Emmanouil Tsafantakis,Jaakko Tuomilehto,Anne Tybjærg-Hansen,Jonathan Tyrer,Rudolf Uher,André G. Uitterlinden,Matti Uusitupa,Sander W. van der Laan,Cornelia M. van Duijn,Nienke van Leeuwen,Nienke van Leeuwen,Jessica van Setten,Mauno Vanhala,Anette Varbo,Tibor V. Varga,Rohit Varma,Digna R. Velez Edwards,Sita H. Vermeulen,Giovanni Veronesi,Henrik Vestergaard,Henrik Vestergaard,Veronique Vitart,Thomas F. Vogt,Uwe Völker,Dragana Vuckovic,Lynne E. Wagenknecht,Mark Walker,Lars Wallentin,Feijie Wang,Carol A. Wang,Shuai Wang,Yiqin Wang,Erin B. Ware,Nicholas J. Wareham,Helen R. Warren,Dawn M. Waterworth,Jennifer Wessel,Harvey D. White,Cristen J. Willer,James G. Wilson,Daniel R. Witte,Andrew R. Wood,Ying Wu,Hanieh Yaghootkar,Jie Yao,Pang Yao,Laura M. Yerges-Armstrong,Laura M. Yerges-Armstrong,Robin Young,Robin Young,Eleftheria Zeggini,Xiaowei Zhan,Weihua Zhang,Weihua Zhang,Jing Hua Zhao,Wei Zhao,Wei Zhao,Wei Zhou,Krina T. Zondervan,Jerome I. Rotter,John Andrew Pospisilik,Fernando Rivadeneira,Ingrid B. Borecki,Panos Deloukas,Panos Deloukas,Timothy M. Frayling,Guillaume Lettre,Kari E. North,Cecilia M. Lindgren,Joel N. Hirschhorn,Joel N. Hirschhorn,Ruth J. F. Loos +489 more
TL;DR: Exome-wide analysis identifies rare and low-frequency coding variants associated with body mass index that confirm enrichment of neuronal genes and provide new evidence for adipocyte and energy expenditure biology, widening the potential of genetically supported therapeutic targets in obesity.
Genome-wide physical activity interactions in adiposity. A meta-analysis of 200,452 adults
Mariaelisa Graff,Robert A. Scott,Anne E. Justice,Kristin L. Young,Mary F. Feitosa,Llilda Barata,Thomas W. Winkler,Audrey Y. Chu,Audrey Y. Chu,Anubha Mahajan,David Hadley,Luting Xue,Luting Xue,Tsegaselassie Workalemahu,Nancy L. Heard-Costa,Nancy L. Heard-Costa,Marcel den Hoed,Marcel den Hoed,Tarunveer S. Ahluwalia,Tarunveer S. Ahluwalia,Qibin Qi,Julius S. Ngwa,Frida Renström,Frida Renström,Lydia Quaye,John D. Eicher,James E. Hayes,James E. Hayes,Marilyn C. Cornelis,Marilyn C. Cornelis,Marilyn C. Cornelis,Zoltán Kutalik,Zoltán Kutalik,Elise Lim,Jian'an Luan,Jennifer E. Huffman,Jennifer E. Huffman,Weihua Zhang,Weihua Zhang,Wei Zhao,Paula J. Griffin,Toomas Haller,Shafqat Ahmad,Pedro Marques-Vidal,Stephanie A. Bien,Loic Yengo,Alexander Teumer,Albert V. Smith,Meena Kumari,Marie Neergaard Harder,Johanne Marie Justesen,Marcus E. Kleber,Marcus E. Kleber,Mette Hollensted,Kurt Lohman,Natalia V. Rivera,John Whitfield,Jing Hua Zhao,Heather M. Stringham,Leo-Pekka Lyytikäinen,Charlotte Huppertz,Charlotte Huppertz,Gonneke Willemsen,Gonneke Willemsen,Wouter J. Peyrot,Ying Wu,Kati Kristiansson,Kati Kristiansson,Ayse Demirkan,Ayse Demirkan,Myriam Fornage,Maija Hassinen,Lawrence F. Bielak,Gemma Cadby,Toshiko Tanaka,Reedik Mägi,Peter J. van der Most,Anne U. Jackson,Jennifer L. Bragg-Gresham,Veronique Vitart,Jonathan Marten,Pau Navarro,Claire Bellis,Claire Bellis,Dorota Pasko,Åsa Johansson,Soren Snitker,Yu-Ching Cheng,Joel Eriksson,Unhee Lim,Mette Aadahl,Mette Aadahl,Linda S. Adair,Najaf Amin,Beverley Balkau,Juha Auvinen,Juha Auvinen,John Beilby,John Beilby,Richard N. Bergman,Sven Bergmann,Sven Bergmann,Alain G. Bertoni,John Blangero,Amélie Bonnefond,Lori L. Bonnycastle,Judith B. Borja,Soren Brage,Fabio Busonero,Steve Buyske,Harry Campbell,Peter S. Chines,Francis S. Collins,Tanguy Corre,Tanguy Corre,George Davey Smith,Graciela E. Delgado,Nicole Dueker,Marcus Dörr,Tapani Ebeling,Tapani Ebeling,Gudny Eiriksdottir,Tõnu Esko,Jessica D. Faul,Mao Fu,Kristine Færch,Christian Gieger,Sven Gläser,Jian Gong,Penny Gordon-Larsen,Harald Grallert,Tanja B. Grammer,Niels Grarup,Gerard van Grootheest,Kennet Harald,Nicholas D. Hastie,Aki S. Havulinna,Dena G. Hernandez,Lucia A. Hindorff,Lynne J. Hocking,Lynne J. Hocking,Oddgeir L. Holmens,Christina Holzapfel,Jouke-Jan Hottenga,Jie Huang,Tao Huang,Jennie Hui,Jennie Hui,Cornelia Huth,Nina Hutri-Kähönen,Alan James,Alan James,John-Olov Jansson,Min A. Jhun,Markus Juonala,Markus Juonala,Leena Kinnunen,Heikki A. Koistinen,Heikki A. Koistinen,Heikki A. Koistinen,Ivana Kolcic,Pirjo Komulainen,Johanna Kuusisto,Kirsti Kvaløy,Mika Kähönen,Timo A. Lakka,Lenore J. Launer,Benjamin Lehne,Cecilia M. Lindgren,Cecilia M. Lindgren,Cecilia M. Lindgren,Mattias Lorentzon,Mattias Lorentzon,Robert Luben,Michel Marre,Yuri Milaneschi,Keri L. Monda,Keri L. Monda,Grant W. Montgomery,Marleen H.M. de Moor,Marleen H.M. de Moor,Antonella Mulas,Martina Müller-Nurasyid,Arthur W. Musk,Arthur W. Musk,Reija Männikkö,Satu Männistö,Narisu Narisu,Matthias Nauck,Jennifer A. Nettleton,Ilja M. Nolte,Albertine J. Oldehinkel,Matthias Olden,Ken K. Ong,Sandosh Padmanabhan,Sandosh Padmanabhan,Lavinia Paternoster,Jeremiah Perez,Markus Perola,Markus Perola,Markus Perola,Annette Peters,Ulrike Peters,Patricia A. Peyser,Inga Prokopenko,Hannu Puolijoki,Olli T. Raitakari,Olli T. Raitakari,Tuomo Rankinen,Laura J. Rasmussen-Torvik,Rajesh Rawal,Paul M. Ridker,Paul M. Ridker,Lynda M. Rose,Igor Rudan,Cinzia Sarti,Mark A. Sarzynski,Kai Savonen,William R. Scott,Serena Sanna,Alan R. Shuldiner,Steve Sidney,Günther Silbernagel,Blair H. Smith,Blair H. Smith,Jennifer A. Smith,Harold Snieder,Alena Stančáková,Barbara Sternfeld,Amy J. Swift,Tuija Tammelin,Sian-Tsung Tan,Barbara Thorand,Dorothée Thuillier,Liesbeth Vandenput,Henrik Vestergaard,Henrik Vestergaard,Jana V. van Vliet-Ostaptchouk,Marie-Claude Vohl,Uwe Völker,Gérard Waeber,Mark Walker,Sarah H. Wild,Andrew Wong,Alan F. Wright,M. Carola Zillikens,Niha Zubair,Christopher A. Haiman,Loic LeMarchand,Ulf Gyllensten,Claes Ohlsson,Albert Hofman,Albert Hofman,Fernando Rivadeneira,Fernando Rivadeneira,André G. Uitterlinden,Louis Pérusse,James F. Wilson,Caroline Hayward,Ozren Polasek,Francesco Cucca,Kristian Hveem,Catharina A. Hartman,Anke Tönjes,Stefania Bandinelli,Lyle J. Palmer,Sharon L.R. Kardia,Rainer Rauramaa,Thorkild I. A. Sørensen,Jaakko Tuomilehto,Jaakko Tuomilehto,Jaakko Tuomilehto,Veikko Salomaa,Brenda W.J.H. Penninx,Eco J. C. de Geus,Eco J. C. de Geus,Dorret I. Boomsma,Terho Lehtimäki,Massimo Mangino,Massimo Mangino,Markku Laakso,Claude Bouchard,Nicholas G. Martin,Diana Kuh,Yongmei Liu,Allan Linneberg,Allan Linneberg,Winfried März,Winfried März,Winfried März,Konstantin Strauch,Mika Kivimäki,Tamara B. Harris,Vilmundur Gudnason,Henry Völzke,Lu Qi,Marjo-Riitta Järvelin,John C. Chambers,John C. Chambers,John C. Chambers,Jaspal S. Kooner,Jaspal S. Kooner,Jaspal S. Kooner,Philippe Froguel,Philippe Froguel,Charles Kooperberg,Peter Vollenweider,Göran Hallmans,Torben Hansen,Oluf Pedersen,Andres Metspalu,Nicholas J. Wareham,Claudia Langenberg,David R. Weir,David J. Porteous,Eric Boerwinkle,Daniel I. Chasman,Daniel I. Chasman,Daniel I. Chasman,Gonçalo R. Abecasis,Inês Barroso,Inês Barroso,Mark I. McCarthy,Mark I. McCarthy,Timothy M. Frayling,Jeffrey R. O'Connell,Cornelia M. van Duijn,Cornelia M. van Duijn,Michael Boehnke,Iris M. Heid,Karen L. Mohlke,David P. Strachan,Caroline S. Fox,Ching-Ti Liu,Joel N. Hirschhorn,Joel N. Hirschhorn,Joel N. Hirschhorn,Robert J. Klein,Andrew D. Johnson,Ingrid B. Borecki,Paul W. Franks,Paul W. Franks,Paul W. Franks,Kari E. North,L. Adrienne Cupples,L. Adrienne Cupples,Ruth J. F. Loos,Tuomas O. Kilpeläinen,Tuomas O. Kilpeläinen,Tuomas O. Kilpeläinen +349 more
TL;DR: In additional genome-wide meta-analyses adjusting for PA and interaction with PA, 11 novel adiposity loci are identified, suggesting that accounting for PA or other environmental factors that contribute to variation in adiposity may facilitate gene discovery.