Literature DB >> 22253119

Maps for the world of genomic medicine: the 2011 CSHL Personal Genomes meeting.

Xiangqun Zheng-Bradley1, Paul Flicek.   

Abstract

The fourth Personal Genomes meeting was held at Cold Spring Harbor Laboratory, New York, from 30 September to 2 October and provided an exciting collection of science built on recent significant milestones in individual human genome sequencing, from the first personal genomes to thousands of human genomes sequenced. As ultra-high throughput sequencing platforms enable the production of more and more individual genomes, a growing number of scientists, physicians, and clinical geneticists are actively exploring the promise and the implications of these new data. Personal Genomes brought many of these pioneers together with nearly 200 scientists, physicians, ethicists, and others to discuss the progress and opportunities around the sequencing and medical interpretation of individual genome sequences.
© 2012 Wiley Periodicals, Inc.

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Year:  2012        PMID: 22253119      PMCID: PMC5922414          DOI: 10.1002/humu.22024

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


  19 in total

1.  Clan genomics and the complex architecture of human disease.

Authors:  James R Lupski; John W Belmont; Eric Boerwinkle; Richard A Gibbs
Journal:  Cell       Date:  2011-09-30       Impact factor: 41.582

2.  Which way for genetic-test regulation? Leave test interpretation to specialists.

Authors:  Arthur L Beaudet
Journal:  Nature       Date:  2010-08-12       Impact factor: 49.962

3.  De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.

Authors:  Alexander Hoischen; Bregje W M van Bon; Christian Gilissen; Peer Arts; Bart van Lier; Marloes Steehouwer; Petra de Vries; Rick de Reuver; Nienke Wieskamp; Geert Mortier; Koen Devriendt; Marta Z Amorim; Nicole Revencu; Alexa Kidd; Mafalda Barbosa; Anne Turner; Janine Smith; Christina Oley; Alex Henderson; Ian M Hayes; Elizabeth M Thompson; Han G Brunner; Bert B A de Vries; Joris A Veltman
Journal:  Nat Genet       Date:  2010-05-02       Impact factor: 38.330

4.  A de novo paradigm for mental retardation.

Authors:  Lisenka E L M Vissers; Joep de Ligt; Christian Gilissen; Irene Janssen; Marloes Steehouwer; Petra de Vries; Bart van Lier; Peer Arts; Nienke Wieskamp; Marisol del Rosario; Bregje W M van Bon; Alexander Hoischen; Bert B A de Vries; Han G Brunner; Joris A Veltman
Journal:  Nat Genet       Date:  2010-11-14       Impact factor: 38.330

Review 5.  A continuum model for tumour suppression.

Authors:  Alice H Berger; Alfred G Knudson; Pier Paolo Pandolfi
Journal:  Nature       Date:  2011-08-10       Impact factor: 49.962

6.  Eye color and the prediction of complex phenotypes from genotypes.

Authors:  Fan Liu; Kate van Duijn; Johannes R Vingerling; Albert Hofman; André G Uitterlinden; A Cecile J W Janssens; Manfred Kayser
Journal:  Curr Biol       Date:  2009-03-10       Impact factor: 10.834

7.  De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.

Authors:  Alexander Hoischen; Bregje W M van Bon; Benjamín Rodríguez-Santiago; Christian Gilissen; Lisenka E L M Vissers; Petra de Vries; Irene Janssen; Bart van Lier; Rob Hastings; Sarah F Smithson; Ruth Newbury-Ecob; Susanne Kjaergaard; Judith Goodship; Ruth McGowan; Deborah Bartholdi; Anita Rauch; Maarit Peippo; Jan M Cobben; Dagmar Wieczorek; Gabriele Gillessen-Kaesbach; Joris A Veltman; Han G Brunner; Bert B B A de Vries
Journal:  Nat Genet       Date:  2011-06-26       Impact factor: 38.330

8.  Identification of a novel TP53 cancer susceptibility mutation through whole-genome sequencing of a patient with therapy-related AML.

Authors:  Daniel C Link; Laura G Schuettpelz; Dong Shen; Jinling Wang; Matthew J Walter; Shashikant Kulkarni; Jacqueline E Payton; Jennifer Ivanovich; Paul J Goodfellow; Michelle Le Beau; Daniel C Koboldt; David J Dooling; Robert S Fulton; R Hugh F Bender; Lucinda L Fulton; Kimberly D Delehaunty; Catrina C Fronick; Elizabeth L Appelbaum; Heather Schmidt; Rachel Abbott; Michelle O'Laughlin; Ken Chen; Michael D McLellan; Nobish Varghese; Rakesh Nagarajan; Sharon Heath; Timothy A Graubert; Li Ding; Timothy J Ley; Gerard P Zambetti; Richard K Wilson; Elaine R Mardis
Journal:  JAMA       Date:  2011-04-20       Impact factor: 56.272

9.  Use of whole-genome sequencing to diagnose a cryptic fusion oncogene.

Authors:  John S Welch; Peter Westervelt; Li Ding; David E Larson; Jeffery M Klco; Shashikant Kulkarni; John Wallis; Ken Chen; Jacqueline E Payton; Robert S Fulton; Joelle Veizer; Heather Schmidt; Tammi L Vickery; Sharon Heath; Mark A Watson; Michael H Tomasson; Daniel C Link; Timothy A Graubert; John F DiPersio; Elaine R Mardis; Timothy J Ley; Richard K Wilson
Journal:  JAMA       Date:  2011-04-20       Impact factor: 56.272

10.  Hundreds of variants clustered in genomic loci and biological pathways affect human height.

Authors:  Hana Lango Allen; Karol Estrada; Guillaume Lettre; Sonja I Berndt; Michael N Weedon; Fernando Rivadeneira; Cristen J Willer; Anne U Jackson; Sailaja Vedantam; Soumya Raychaudhuri; Teresa Ferreira; Andrew R Wood; Robert J Weyant; Ayellet V Segrè; Elizabeth K Speliotes; Eleanor Wheeler; Nicole Soranzo; Ju-Hyun Park; Jian Yang; Daniel Gudbjartsson; Nancy L Heard-Costa; Joshua C Randall; Lu Qi; Albert Vernon Smith; Reedik Mägi; Tomi Pastinen; Liming Liang; Iris M Heid; Jian'an Luan; Gudmar Thorleifsson; Thomas W Winkler; Michael E Goddard; Ken Sin Lo; Cameron Palmer; Tsegaselassie Workalemahu; Yurii S Aulchenko; Asa Johansson; M Carola Zillikens; Mary F Feitosa; Tõnu Esko; Toby Johnson; Shamika Ketkar; Peter Kraft; Massimo Mangino; Inga Prokopenko; Devin Absher; Eva Albrecht; Florian Ernst; Nicole L Glazer; Caroline Hayward; Jouke-Jan Hottenga; Kevin B Jacobs; Joshua W Knowles; Zoltán Kutalik; Keri L Monda; Ozren Polasek; Michael Preuss; Nigel W Rayner; Neil R Robertson; Valgerdur Steinthorsdottir; Jonathan P Tyrer; Benjamin F Voight; Fredrik Wiklund; Jianfeng Xu; Jing Hua Zhao; Dale R Nyholt; Niina Pellikka; Markus Perola; John R B Perry; Ida Surakka; Mari-Liis Tammesoo; Elizabeth L Altmaier; Najaf Amin; Thor Aspelund; Tushar Bhangale; Gabrielle Boucher; Daniel I Chasman; Constance Chen; Lachlan Coin; Matthew N Cooper; Anna L Dixon; Quince Gibson; Elin Grundberg; Ke Hao; M Juhani Junttila; Lee M Kaplan; Johannes Kettunen; Inke R König; Tony Kwan; Robert W Lawrence; Douglas F Levinson; Mattias Lorentzon; Barbara McKnight; Andrew P Morris; Martina Müller; Julius Suh Ngwa; Shaun Purcell; Suzanne Rafelt; Rany M Salem; Erika Salvi; Serena Sanna; Jianxin Shi; Ulla Sovio; John R Thompson; Michael C Turchin; Liesbeth Vandenput; Dominique J Verlaan; Veronique Vitart; Charles C White; Andreas Ziegler; Peter Almgren; Anthony J Balmforth; Harry Campbell; Lorena Citterio; Alessandro De Grandi; Anna Dominiczak; Jubao Duan; Paul Elliott; Roberto Elosua; Johan G Eriksson; Nelson B Freimer; Eco J C Geus; Nicola Glorioso; Shen Haiqing; Anna-Liisa Hartikainen; Aki S Havulinna; Andrew A Hicks; Jennie Hui; Wilmar Igl; Thomas Illig; Antti Jula; Eero Kajantie; Tuomas O Kilpeläinen; Markku Koiranen; Ivana Kolcic; Seppo Koskinen; Peter Kovacs; Jaana Laitinen; Jianjun Liu; Marja-Liisa Lokki; Ana Marusic; Andrea Maschio; Thomas Meitinger; Antonella Mulas; Guillaume Paré; Alex N Parker; John F Peden; Astrid Petersmann; Irene Pichler; Kirsi H Pietiläinen; Anneli Pouta; Martin Ridderstråle; Jerome I Rotter; Jennifer G Sambrook; Alan R Sanders; Carsten Oliver Schmidt; Juha Sinisalo; Jan H Smit; Heather M Stringham; G Bragi Walters; Elisabeth Widen; Sarah H Wild; Gonneke Willemsen; Laura Zagato; Lina Zgaga; Paavo Zitting; Helene Alavere; Martin Farrall; Wendy L McArdle; Mari Nelis; Marjolein J Peters; Samuli Ripatti; Joyce B J van Meurs; Katja K Aben; Kristin G Ardlie; Jacques S Beckmann; John P Beilby; Richard N Bergman; Sven Bergmann; Francis S Collins; Daniele Cusi; Martin den Heijer; Gudny Eiriksdottir; Pablo V Gejman; Alistair S Hall; Anders Hamsten; Heikki V Huikuri; Carlos Iribarren; Mika Kähönen; Jaakko Kaprio; Sekar Kathiresan; Lambertus Kiemeney; Thomas Kocher; Lenore J Launer; Terho Lehtimäki; Olle Melander; Tom H Mosley; Arthur W Musk; Markku S Nieminen; Christopher J O'Donnell; Claes Ohlsson; Ben Oostra; Lyle J Palmer; Olli Raitakari; Paul M Ridker; John D Rioux; Aila Rissanen; Carlo Rivolta; Heribert Schunkert; Alan R Shuldiner; David S Siscovick; Michael Stumvoll; Anke Tönjes; Jaakko Tuomilehto; Gert-Jan van Ommen; Jorma Viikari; Andrew C Heath; Nicholas G Martin; Grant W Montgomery; Michael A Province; Manfred Kayser; Alice M Arnold; Larry D Atwood; Eric Boerwinkle; Stephen J Chanock; Panos Deloukas; Christian Gieger; Henrik Grönberg; Per Hall; Andrew T Hattersley; Christian Hengstenberg; Wolfgang Hoffman; G Mark Lathrop; Veikko Salomaa; Stefan Schreiber; Manuela Uda; Dawn Waterworth; Alan F Wright; Themistocles L Assimes; Inês Barroso; Albert Hofman; Karen L Mohlke; Dorret I Boomsma; Mark J Caulfield; L Adrienne Cupples; Jeanette Erdmann; Caroline S Fox; Vilmundur Gudnason; Ulf Gyllensten; Tamara B Harris; Richard B Hayes; Marjo-Riitta Jarvelin; Vincent Mooser; Patricia B Munroe; Willem H Ouwehand; Brenda W Penninx; Peter P Pramstaller; Thomas Quertermous; Igor Rudan; Nilesh J Samani; Timothy D Spector; Henry Völzke; Hugh Watkins; James F Wilson; Leif C Groop; Talin Haritunians; Frank B Hu; Robert C Kaplan; Andres Metspalu; Kari E North; David Schlessinger; Nicholas J Wareham; David J Hunter; Jeffrey R O'Connell; David P Strachan; H-Erich Wichmann; Ingrid B Borecki; Cornelia M van Duijn; Eric E Schadt; Unnur Thorsteinsdottir; Leena Peltonen; André G Uitterlinden; Peter M Visscher; Nilanjan Chatterjee; Ruth J F Loos; Michael Boehnke; Mark I McCarthy; Erik Ingelsson; Cecilia M Lindgren; Gonçalo R Abecasis; Kari Stefansson; Timothy M Frayling; Joel N Hirschhorn
Journal:  Nature       Date:  2010-09-29       Impact factor: 49.962

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