6 research outputs found
The Pregnant Teenager
- Author
- A.F. Abrahamse
- A.J. Satin
- A.M. Fraser
- A.P. Streissguth
- A.R. Holder
- B. Alexander
- B. Morgan
- B.L. Hartwell
- C.J. Howell
- Center for Disease Control and Prevention
- Center for Disease Control and Prevention
- Center for Disease Control and Prevention
- Center for Disease Control and Prevention
- D.Y. Rainey
- E.F. Jones
- F. Sonenstein
- F.C. Battaglia
- G.J. Hofmeyr
- J. Kanto
- J. Kennell
- J.A. Jaskiewicz
- J.C. Abma
- J.C. Eisenach
- J.H. Duenhoelter
- J.H. Eisele
- J.L. Hawkins
- J.O. Robinson
- K. Moore
- L. Berne
- L. Skibsted
- M. Males
- M.C. Norris
- M.C. Norris
- M.D. Resnick
- M.J. Paech
- M.M. Jones
- M.T. Pitkänen
- N. Rawal
- R. Sosa
- R.A. Maynard
- S.B. Amini
- S.C. Curtin
- S.J. Ventura
- T.J. Mathews
- T.O. Scholl
- T.W. Schnider
- W. Camann
- W.J. Henneborn
- W.R. Camann
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2004
- Field of study
Surface-Modified Magnetic Nanoscale Materials: Preparation and Study of Their Structure, Composition, and Properties
- Author
- A. Adak
- A. Ballesteros-Gómez
- A. Brandt
- A. Charoensaeng
- A. Fan
- A. Majid
- A. Mehdinia
- A. Rios
- A.D. Bangham
- A.E. Karatapanis
- A.G. Akopdzhanov
- A.R. Rennie
- A.R. Timerbaev
- A.S. Gubin
- A.Yu. Gervald
- A.Yu. Olenin
- B. Ball
- B.I. Kharisov
- C. Hui
- C. Lee
- C.C. West
- D. Huang
- D. Mozhayeva
- D.A. Gorin
- D.V. Pryazhnikov
- D.V. Pryazhnikov
- D.V. Pryazhnikov
- D.V. Pryazhnikov
- D.V. Pryazhnikov
- D.W. Fuerstenau
- E. Amstad
- E.A. Campos
- E.A. Vaytulevich
- F. Hoffmann
- F. Omidi
- F. Wang
- F.-K. Liu
- F.-K. Liu
- G. Bozzuto
- G. Li
- G. Li
- G.A. Tompsett
- G.J. Strijkers
- G.M. Førland
- H. Bagheri
- H. Niu
- H. Sanaeishoar
- I. Bilecka
- I.M.M. Kenawy
- I.V. Kubrakova
- I.V. Kubrakova
- I.V. Kubrakova
- J. Ding
- J. Kudr
- J. Vidal-Vidal
- J. Zhang
- J.-H. Lin
- J.C. Park
- J.M. Cases
- J.M. Vargas
- K. Aguilar-Arteaga
- K. Turcheniuk
- K. Wu
- K.-C. Hsu
- K.C. de Souza
- K.C. Souza
- K.O. Kazimirova
- K.O. Kazimirova
- K.V. Likhachev
- L. Chen
- L. Greib
- L. Jing
- L. Mohammed
- L. Pitkänen
- L. Shen
- L. Shen
- L. Sun
- L. Xie
- L. Zhao
- M. Behbahani
- M. Binandeh
- M. Faraji
- M. Mahdavi
- M. Mahmoudi
- M. Moritz
- M. Zienkiewicz-Strzałka
- M.A. Agotegaray
- M.D. Montano
- M.E. Khosroshahi
- M.K. Yu
- M.S. Kiseleva
- M.T. López-López
- M.V. Kuznetsov
- N. Löwa
- N.S. Elbialy
- O. Bixner
- O. Mokhodoeva
- O. Saber
- O.N. Katasonova
- O.N. Katasonova
- O.P. Egunova
- O.R. Egunova
- O.R. Egunova
- P. Azizi
- P. Biehl
- P. Chandar
- P. Pal
- P. Panya
- Q. Han
- Q. Lan
- Q. Lan
- R. Atkin
- R. Lucena
- R.S. García
- R.Y. Hong
- S. Besson
- S. Dutt
- S. Gangula
- S. Laurent
- S. Lu
- S. Majidi
- S. Mandal
- S. Naasz
- S. Rubio
- S. Rubio
- S. Shariati
- S.-E. Park
- S.C. de Araújo Lopes
- S.D. Kirik
- S.G. Dmitrienko
- S.H. Araghi
- S.M. Notley
- S.S. Grazhulene
- Sh. Wang
- T. Siebrands
- T. Wagner
- T.P. Goloub
- V. Pareek
- V.M. Shkinev
- V.V. Tolmacheva
- V.V. Tolmacheva
- V.V. Tolmacheva
- W. Wang
- W. Wang
- W.Y. Rho
- X. Fu
- X. Gao
- X. Li
- X. Liu
- X. Yue
- X. Zhang
- X. Zhao
- Y. Gao
- Y. Moliner-Martínez
- Y. Song
- Y. Tai
- Yu.D. Tretyakov
- Z. Cao
- Z. Cao
- Z. Lei
- Z.A. Alothman
- Á.B. Murcia
- Publication venue
- 'Pleiades Publishing Ltd'
- Publication date
- Field of study
A saturated map of common genetic variants associated with human height
- Author
- 't Hart Leen M
- Abecasis Goncalo
- Adair L.S.
- Adams H.H.H.
- Aguilar-Salinas Carlos Alberto
- Ahluwalia Tarunveer Singh
- Akiyama Masato
- Al-Mulla F.
- Allison Matthew A.
- Andersen Mette korre
- Ani Alireza
- Appadurai Vivek
- Arbeeva Liubov
- Arias Joshua D.
- Arnett D.K.
- Asselbergs F.W.
- Assimes Themistocles
- Attia J.
- Auton Adam
- Banas B.
- Bandinelli S.
- Bartell Eric
- Bennett D.A.
- Bergler T.
- Berndt Sonja I.
- Bharadwaj D.
- Bhaskar Seema
- Bielak Lawrence F.
- Biino G.
- Bin Wei W.
- Bisgaard H.
- Boehnke Michael
- Boerwinkle E.
- Bollepalli Sailalitha
- Bonnycastle Lori L.
- Boomsma D.I.
- Borja J.B.
- Bork-Jensen Jette
- Bouchard C.
- Bowden D.W.
- Bradfield J.P.
- Bradford Y.
- Brandslund I.
- Braund P.S.
- Brody J.A.
- Brumpton B.
- Burgdorf K.S.
- Buring J.E.
- Böger C.A.
- Bønnelykke K.
- Børglum A.D.
- Cade B.E.
- Cai H.
- Cai Q.
- Campbell Archie
- Catamo E.
- Caulfield M.J.
- Cañadas-Garre Marisa
- Chai J.F.
- Chai X.
- Chambers J.C.
- Chandak G.R.
- Chang L.C.
- Chang Y.C.
- Chanock Stephen J.
- Chasman Daniel I.
- Chaturvedi N.
- Chen C.H.
- Chen Shyh-Huei
- Chen Y.D.I.
- Chen Z.
- Cheng C.Y.
- Chesi A.
- Cho Yoon Shin
- Choi S.H.
- Christofidou P.
- Christophersen I.E.
- Chung R.H.
- Ciullo M.
- Cocca M.
- Cole J.W.
- Collins F.S.
- Concas M.P.
- Cooper R.S.
- Couture C.
- Croteau-Chonka Damien
- Cruz M.
- Cucca F.
- Cuellar-Partida Gabriel
- Cupples L.A.
- Cutler M.J.
- Damrauer S.M.
- Danning R.
- Dantoft T.M.
- Daw E.W.
- de Borst G.J.
- de Groot L.C.P.G.M.
- De Jager P.L.
- de Kleijn D.P.V.
- Dedoussis G.V.
- Degenhard F.
- Delgado G.E.
- Delitala A.
- Deloukas Panos
- Demirkan A.
- den Hollander A.I.
- Deng X.
- Devineni P.
- Dietl A.
- Dimitriou M.
- Dimitrov L.
- Dorajoo R.
- Du S.
- Easton D.F.
- Ekici A.B.
- Elders P.J.M.
- Eliasen Anders U.
- Eliassen A.H.
- Ellinor P.T.
- Elmståhl S.
- Engmann J.E.
- Erdmann J.
- Esko Tõnu
- Evans M.K.
- Fairhurst-Hunter Z.
- Farmaki A.E.
- Fatkin D.
- Faul J.D.
- Feenstra B.
- Feitosa M.F.
- Fernandez-Lopez J.C.
- Ferreira Teresa
- Ferrucci L.
- Ford I.
- Forer L.
- Fornage M.
- Francescatto M.
- Franke A.
- Franks P.W.
- Frayling Timothy M.
- Freedman B.I.
- Freitag-Wolf S.
- Fuchsberger C.
- Galesloot Tessel E
- Gao Y.
- Gao Z.
- Gasparini P.
- Geller F.
- Giannakopoulou O.
- Gieger C.
- Girotto G.
- Giulianini F.
- Gjesing A.P.
- Goddard M.E.
- Goel A.
- Golightly Y.M.
- Gonzalez-Villalpando C.
- Gordon S.D.
- Gordon-Larsen P.
- Gorski M.
- Graff Marielisa
- Graham Sarah E.
- Grallert H.
- Grant S.F.A.
- Grarup N.
- Griffiths L.
- Grove J.
- Gudnason V.
- Guo X.
- Gustafsson S.
- Haessler J.
- Haiman C.
- Hakonarson H.
- Hansen T.
- Hansen T.F.
- Hartman C.A.
- Hattersley A.T.
- Havulinna A.S.
- Haworth S.J.
- Hayward C.
- He J.
- Heard-Costa N.
- Hebbar P.
- Heckbert S.R.
- Heid Iris M.
- Heng C.K.
- Hengstenberg C.
- Hewitt A.W.
- Highland Heather H.
- Hindy G.
- Hirschhorn Joel N.
- Hishigaki H.
- Ho Y.L.A.
- Hofer E.
- Holliday E.
- Horn K.
- Hornsby W.E.
- Hottenga J.J.
- Hoyng C.B.
- Huang H.
- Huang J.
- Huang P.L.
- Huang W.
- Huerta-Chagoya A.
- Huffman J.E.
- Hung Y.J.
- Hunt S.C.
- Huo S.
- Hveem K.
- Hwang M.Y.
- Hyppönen E.
- Iacono W.G.
- Ichihara S.
- Iha H.
- Ikeda D.D.
- Ikram M.A.
- Isasi C.R.
- Isono M.
- Jackson A.U.
- Jackson R.D.
- Janaka de Silva H.
- Jansen I.E.
- Jarvelin M.R.
- Ji Yingjie
- Jiang Yunxuan
- Jin Z.B.
- Johansson I.
- Jonas J.B.
- Jonsson A.
- Joshi P.K.
- Jousilahti P.
- Jukema J.W.
- Justice Anne E.
- Jäger S.
- Jöckel K.H.
- Jørgensen T.
- Kalafati I.P.
- Kamatani Y.
- Kanai M.
- Kang K.D.
- Kanoni S.
- Kaprio J.
- Karaderi Tugce
- Kardia S.L.R.
- Karpe F.
- Kasturiratne A.
- Kato N.
- Katsuya T.
- Kawaguchi T.
- Kee F.
- Kember R.L.
- Kentistou K.A.
- Kessler T.
- Khera A.V.
- Khor C.C.
- Kiemeney L.A.L.M.
- Kim B.J.
- Kim E.K.
- Kim H.L.
- Kim H.N.
- Kim Y.J.
- Kirchhof P.
- Kivimaki M.
- Kleber M.E.
- Knol M.J.
- Koh W.P.
- Koistinen H.A.
- Kolovou G.D.
- Kooner J.S.
- Kooperberg C.
- Kovacs P.
- Kraaijeveld A.
- Kraft P.
- Krauss R.M.
- Kumari M.
- Kurbasic A.
- Kutalik Z.
- Kähönen M.
- Kårhus L.L.
- Köttgen A.
- Laakso Markku
- Lange Leslie A
- Langenberg C.
- Launer L.J.
- Lauzon M.
- Le Marchand L.
- Le Marchand Loic
- Le P.
- Lea R.
- Lee H.
- Lee J.Y.
- Lee N.R.
- Lehtimäki T.
- Leonard H.L.
- Lettre Guillaume
- Li H.
- Li L.
- Li S.A.
- Li X.
- Liang J.
- Lieb W.
- Lin H.
- Lin Kuang
- Lin S.Y.
- Lin X.
- Lind L.
- Lindgren Cecilia M.
- Linneberg A.
- Liu C.T.
- Liu J.
- Liu J.
- Liu X.
- Lo K.S.
- Locke Adam E.
- Loeffler M.
- Loh Po-Ru
- London B.
- Long J.
- Loos Ruth J. F.
- Lores-Motta L.
- Luan J.
- Lubitz S.A.
- Lye S.J.
- Lyssenko V.
- Lyytikäinen L.P.
- Lüll Kreete
- Machado Moara
- Mackey D.A.
- Magnusson P.K.E.
- Mahajan A.
- Malden Deborah
- Mamakou V.
- Mangino M.
- Manichaikul A.
- Marcus G.M.
- Marouli Eirini
- Marten J.
- Martin N.G.
- Matsuda F.
- Mattheisen M.
- Mavarani L.
- McCarthy Mark I.
- McDaid A.F.
- McGarrah R.W.
- McGue M.
- McKnight A.J.
- Medina-Gomez Carolina
- Medland S.E.
- Meidtner K.
- Melendez T.L.
- Mellström D.
- Mercader J.M.
- Metspalu A.
- Miao Jenkai
- Milaneschi Y.
- Miller J.E.
- Millwood I.Y.
- Mishra P.P.
- Mitchell B.D.
- Mitchell P.
- Mitchell R.E.
- Mohlke Karen L.
- Mook-Kanamori D.O.
- Moore Amy
- Morgan A.
- Morris A.D.
- Mucci L.A.
- Mucha S.
- Mukamel Ronen E.
- Munroe P.B.
- Munz M.
- Mägi R.
- März W.
- Møllehave L.T.
- Nakatochi M.
- Nalls M.A.
- Nazarian S.
- Nelson A.E.
- Nelson C.P.
- Nethander M.
- Neville M.J.
- Newton-Cheh C.
- Ng Maggie C. Y.
- Nho C.W.
- Nielsen A.A.
- Nielsen C.S.
- Nolte I.M.
- Nongmaithem S.S.
- Noordam R.
- North Kari E.
- Ntalla I.
- Nutile T.
- Nöthen M.M.
- O'Donnell Christopher J.
- Ohlsson C.
- Okada Yukinori
- Oldehinkel A.J.
- Orozco L.
- Pahkala K.
- Pajukanta P.
- Palmer C.N.A.
- Pandit A.
- Parra E.J.
- Pattaro C.
- Pauper M.
- Pedersen O.
- Pennell C.E.
- Penninx B.W.J.H.
- Perusse L.
- Peters A.
- Petersen E.R.B.
- Petersen L.V.
- Peyser P.A.
- Pitkänen N.
- Polašek O.
- Porteous D.J.
- Posthuma D.
- Poveda A.
- Power C.
- Pramstaller P.P.
- Preuss M.H.
- Province M.A.
- Pyarajan S.
- Pärna K.
- Qi Q.
- Qu J.
- Rader D.J.
- Raffield L.M.
- Raghavan Sridharan
- Raitakari O.T.
- Rakugi H.
- Ralhan S.
- Rallidis L.S.
- Ramirez J.
- Rao D.C.
- Rasheed A.
- Raven D.
- Rayner N.W.
- Redline S.
- Reilly D.F.
- Reiner A.P.
- Rhee S.Y.
- Ridker P.M.
- Rienstra M.
- Ripatti S.
- Ritchie M.D.
- Rivadeneira Fernando
- Riveros C.
- Roden D.M.
- Rohde R.
- Rosendaal F.R.
- Rotter J.I.
- Rudan I.
- Ruggiero D.
- Ruotsalainen S.E.
- Rutters F.
- Ryan K.A.
- Rüeger Sina
- Sabanayagam C.
- Sabater-Lleal Maria
- Sakaue Saori
- Saleheen D.
- Salomaa V.
- Samani N.J.
- Sanghera D.K.
- Sattar N.
- Saxena R.
- Schmidt B.
- Schmidt H.
- Schmidt R.
- Scholz M.
- Schulze M.B.
- Schunkert H.
- Scott L.J.
- Scott R.J.
- Sendamarai A.
- Sever P.
- Shen B.
- Shi J.
- Shin J.H.
- Shiroma E.J.
- Shoemaker M.B.
- Shu X.O.
- Sidore C.
- Sidorenko Julia
- Sim Xueling
- Simonsick E.M.
- Sims M.
- Singh J.R.
- Singleton A. B.
- Sinner M.F.
- Sitlani Collen M
- Slieker R.C.
- Smit R.A.J.
- Smith A.V.
- Smith J.A.
- Smith J.G.
- Smyth L.J.
- Snieder H.
- Southam L.
- Spector T.D.
- Spracklen Cassandra N.
- Stampfer M.J.
- Stark K.J.
- Stefansson Kari
- Steinthorsdottir V.
- Strachan D.P.
- Sun L.
- Sun Yan V.
- Tabara Y.
- Tai E. Shyong
- Takeuchi F.
- Tallapragada D.S.P.
- Tang H.
- Tardif J.C.
- Taylor K.D.
- Tayo B.O.
- Tcheandjieu C.
- Terzikhan N.
- Tesolin P.
- Teumer A.
- Thanaraj T.A.
- Theusch E.
- Thompson D.J.
- Thorleifsson G.
- Thorsteinsdottir Unnur
- Timmers P.R.H.J.
- Timpson N.J.
- Tremblay A.
- Trompet S.
- Tuomi T.
- Tuomilehto J.
- Turman C.
- Tusié-Luna M.T.
- Tönjes A.
- Uitterlinden A.G.
- Universitat Autònoma de Barcelona
- Vaccargiu S.
- van Dam R.M.
- van der Harst P.
- van der Laan S.W.
- van der Most P.J.
- Van der Velde N.
- van Duijn C.M.
- van Klinken J.B.
- van Schoor N.M.
- van Setten J.
- Vedantam Sailaja
- Verma S.S.
- Verweij N.
- Veturi Y.
- Vidal P.M.
- Visscher PM.
- Vitart V.
- Vollenweider P.
- Vonk Judith M.
- Vrieze Scott
- Völker U.
- Völzke H.
- Wacher-Rodarte N.H.
- Walker M.
- Walters Robin G.
- Wang C.
- Wang C.A.
- Wang L.
- Wang Y.X.
- Wang Z.
- Wareham N.J.
- Warren H.R.
- Watanabe R.M.
- Watkins Hugh
- Weir D.R.
- Werge T.M.
- Wickremasinghe A.R.
- Widen E.
- Wielscher M.
- Wiggins K.L.
- Wilkens Lynne R.
- Willemsen Gonneke
- Willer Cristen J.
- Willett Walter C.
- Wilson James F.
- Winkler Thomas W.
- Winsvold B.S.
- Wong A.
- Wong Tien-Yin
- Woo Jeong-Taek
- Wood Andrew R.
- Wright Alan F.
- Wu Jer-Yuarn
- Wu Y.
- Wuttke M.
- Xia R.
- Xie T.
- Xu Huichun
- Yajnik Chittaranjan S.
- Yamamoto K.
- Yang J.
- Yang Jian
- Yao J.
- Yengo Loic
- Yin Xianyong
- Yokota Mitsuhiro
- Young H.
- Young Kristin L.
- Yousri N.A.
- Yu L.
- Yuan Jian-Min
- Zeggini Eleftheria
- Zemel Babette S.
- Zeng L.
- Zhang W.
- Zhang X.
- Zhao J.H.
- Zhao W.
- Zheng Wei
- Zhou W.
- Zhu Xiaofeng
- Zimmermann M.E.
- Zmuda Joseph M.
- Zoledziewska Magdalena
- Zonderman Alan B.
- Zwart John-Anker
- Álvarez Marcus
- Åsvold B.O.
- Publication venue
- Publication date
- 01/01/2022
- Field of study
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. Here, using data from a genome-wide association study of 5.4 million individuals of diverse ancestries, we show that 12,111 independent SNPs that are significantly associated with height account for nearly all of the common SNP-based heritability. These SNPs are clustered within 7,209 non-overlapping genomic segments with a mean size of around 90 kb, covering about 21% of the genome. The density of independent associations varies across the genome and the regions of increased density are enriched for biologically relevant genes. In out-of-sample estimation and prediction, the 12,111 SNPs (or all SNPs in the HapMap 3 panel) account for 40% (45%) of phenotypic variance in populations of European ancestry but only around 10-20% (14-24%) in populations of other ancestries. Effect sizes, associated regions and gene prioritization are similar across ancestries, indicating that reduced prediction accuracy is likely to be explained by linkage disequilibrium and differences in allele frequency within associated regions. Finally, we show that the relevant biological pathways are detectable with smaller sample sizes than are needed to implicate causal genes and variants. Overall, this study provides a comprehensive map of specific genomic regions that contain the vast majority of common height-associated variants. Although this map is saturated for populations of European ancestry, further research is needed to achieve equivalent saturation in other ancestries
Physiology of the Amygdala: Implications for PTSD
- Author
- A Chen
- A Marowsky
- A Pitkanen
- A Pitkanen
- A Pitkänen
- A Shekhar
- A. I Gulyas
- A. J McDonald
- A. J McDonald
- A. J McDonald
- A. J McDonald
- A. J McDonald
- A. J McDonald
- A. J McDonald
- A. J McDonald
- A. J McDonald
- A. J McDonald
- A. J. McDonald
- A. J. McDonald
- A. J. McDonald
- A. M Blasio Di
- A. M Hull
- A. M Rasmusson
- A. M. Young
- A. R. Woodruff
- A. R. Woodruff
- A. R. Woodruff
- A. R. Woodruff
- B Ferry
- B Ferry
- B Roozendaal
- B Roozendaal
- B Roozendaal
- B. N. Smith
- B. O. Rothbaum
- B. O. Rothbaum
- B. W. Schroeder
- B. W. Schroeder
- C Dalmaz
- C Heim
- C Heim
- C Stein
- C Szinyei
- C. A Kitt
- C. A Morgan III
- C. A Morgan III
- C. C Huang
- C. H Lin
- C. Herry
- C. R Farb
- C.-C. Huang
- C.E Macedo
- D Liao
- D Pare
- D Pare
- D. Fricker
- D. Fricker
- D. G Rainnie
- D. G Rainnie
- D. G Rainnie
- D. G Rainnie
- D. G Rainnie
- D. G Rainnie
- D. G Rainnie
- D. G Rainnie
- D. G Rainnie
- D. G Rainnie
- D. G Rainnie
- D. G Rainnie
- D. G Rainnie
- D. G. Rainnie
- D. J. Berlau
- D. L. Delahanty
- D. L. Gelowitz
- D. L. Walker
- D. M. Buffalari
- D. Pare
- D. Pare
- D. R Collins
- D. T Hubbard
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- Publication date
- Field of study
A saturated map of common genetic variants associated with human height.
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- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
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 <sup>1</sup> . Here, using data from a genome-wide association study of 5.4 million individuals of diverse ancestries, we show that 12,111 independent SNPs that are significantly associated with height account for nearly all of the common SNP-based heritability. These SNPs are clustered within 7,209 non-overlapping genomic segments with a mean size of around 90 kb, covering about 21% of the genome. The density of independent associations varies across the genome and the regions of increased density are enriched for biologically relevant genes. In out-of-sample estimation and prediction, the 12,111 SNPs (or all SNPs in the HapMap 3 panel <sup>2</sup> ) account for 40% (45%) of phenotypic variance in populations of European ancestry but only around 10-20% (14-24%) in populations of other ancestries. Effect sizes, associated regions and gene prioritization are similar across ancestries, indicating that reduced prediction accuracy is likely to be explained by linkage disequilibrium and differences in allele frequency within associated regions. Finally, we show that the relevant biological pathways are detectable with smaller sample sizes than are needed to implicate causal genes and variants. Overall, this study provides a comprehensive map of specific genomic regions that contain the vast majority of common height-associated variants. Although this map is saturated for populations of European ancestry, further research is needed to achieve equivalent saturation in other ancestries
Pan-cancer analysis of whole genomes
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Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale. Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4-5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter; identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation; analyses timings and patterns of tumour evolution; describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity; and evaluates a range of more-specialized features of cancer genomes