Literature DB >> 26442638

Human genetics: Strength in numbers in the low-frequency spectrum.

Magdalena Skipper1.   

Abstract

Entities:  

Year:  2015        PMID: 26442638     DOI: 10.1038/nrg4024

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN: 1471-0056            Impact factor:   53.242


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  6 in total

1.  Whole-genome sequence-based analysis of thyroid function.

Authors:  Peter N Taylor; Eleonora Porcu; Shelby Chew; Purdey J Campbell; Michela Traglia; Suzanne J Brown; Benjamin H Mullin; Hashem A Shihab; Josine Min; Klaudia Walter; Yasin Memari; Jie Huang; Michael R Barnes; John P Beilby; Pimphen Charoen; Petr Danecek; Frank Dudbridge; Vincenzo Forgetta; Celia Greenwood; Elin Grundberg; Andrew D Johnson; Jennie Hui; Ee M Lim; Shane McCarthy; Dawn Muddyman; Vijay Panicker; John R B Perry; Jordana T Bell; Wei Yuan; Caroline Relton; Tom Gaunt; David Schlessinger; Goncalo Abecasis; Francesco Cucca; Gabriela L Surdulescu; Wolfram Woltersdorf; Eleftheria Zeggini; Hou-Feng Zheng; Daniela Toniolo; Colin M Dayan; Silvia Naitza; John P Walsh; Tim Spector; George Davey Smith; Richard Durbin; J Brent Richards; Serena Sanna; Nicole Soranzo; Nicholas J Timpson; Scott G Wilson
Journal:  Nat Commun       Date:  2015-03-06       Impact factor: 14.919

2.  Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel.

Authors:  Jie Huang; Bryan Howie; Shane McCarthy; Yasin Memari; Klaudia Walter; Josine L Min; Petr Danecek; Giovanni Malerba; Elisabetta Trabetti; Hou-Feng Zheng; Giovanni Gambaro; J Brent Richards; Richard Durbin; Nicholas J Timpson; Jonathan Marchini; Nicole Soranzo
Journal:  Nat Commun       Date:  2015-09-14       Impact factor: 14.919

3.  Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture.

Authors:  Hou-Feng Zheng; Vincenzo Forgetta; Yi-Hsiang Hsu; Karol Estrada; Alberto Rosello-Diez; Paul J Leo; Chitra L Dahia; Kyung Hyun Park-Min; Jonathan H Tobias; Charles Kooperberg; Aaron Kleinman; Unnur Styrkarsdottir; Ching-Ti Liu; Charlotta Uggla; Daniel S Evans; Carrie M Nielson; Klaudia Walter; Ulrika Pettersson-Kymmer; Shane McCarthy; Joel Eriksson; Tony Kwan; Mila Jhamai; Katerina Trajanoska; Yasin Memari; Josine Min; Jie Huang; Petr Danecek; Beth Wilmot; Rui Li; Wen-Chi Chou; Lauren E Mokry; Alireza Moayyeri; Melina Claussnitzer; Chia-Ho Cheng; Warren Cheung; Carolina Medina-Gómez; Bing Ge; Shu-Huang Chen; Kwangbom Choi; Ling Oei; James Fraser; Robert Kraaij; Matthew A Hibbs; Celia L Gregson; Denis Paquette; Albert Hofman; Carl Wibom; Gregory J Tranah; Mhairi Marshall; Brooke B Gardiner; Katie Cremin; Paul Auer; Li Hsu; Sue Ring; Joyce Y Tung; Gudmar Thorleifsson; Anke W Enneman; Natasja M van Schoor; Lisette C P G M de Groot; Nathalie van der Velde; Beatrice Melin; John P Kemp; Claus Christiansen; Adrian Sayers; Yanhua Zhou; Sophie Calderari; Jeroen van Rooij; Chris Carlson; Ulrike Peters; Soizik Berlivet; Josée Dostie; Andre G Uitterlinden; Stephen R Williams; Charles Farber; Daniel Grinberg; Andrea Z LaCroix; Jeff Haessler; Daniel I Chasman; Franco Giulianini; Lynda M Rose; Paul M Ridker; John A Eisman; Tuan V Nguyen; Jacqueline R Center; Xavier Nogues; Natalia Garcia-Giralt; Lenore L Launer; Vilmunder Gudnason; Dan Mellström; Liesbeth Vandenput; Najaf Amin; Cornelia M van Duijn; Magnus K Karlsson; Östen Ljunggren; Olle Svensson; Göran Hallmans; François Rousseau; Sylvie Giroux; Johanne Bussière; Pascal P Arp; Fjorda Koromani; Richard L Prince; Joshua R Lewis; Bente L Langdahl; A Pernille Hermann; Jens-Erik B Jensen; Stephen Kaptoge; Kay-Tee Khaw; Jonathan Reeve; Melissa M Formosa; Angela Xuereb-Anastasi; Kristina Åkesson; Fiona E McGuigan; Gaurav Garg; Jose M Olmos; Maria T Zarrabeitia; Jose A Riancho; Stuart H Ralston; Nerea Alonso; Xi Jiang; David Goltzman; Tomi Pastinen; Elin Grundberg; Dominique Gauguier; Eric S Orwoll; David Karasik; George Davey-Smith; Albert V Smith; Kristin Siggeirsdottir; Tamara B Harris; M Carola Zillikens; Joyce B J van Meurs; Unnur Thorsteinsdottir; Matthew T Maurano; Nicholas J Timpson; Nicole Soranzo; Richard Durbin; Scott G Wilson; Evangelia E Ntzani; Matthew A Brown; Kari Stefansson; David A Hinds; Tim Spector; L Adrienne Cupples; Claes Ohlsson; Celia M T Greenwood; Rebecca D Jackson; David W Rowe; Cynthia A Loomis; David M Evans; Cheryl L Ackert-Bicknell; Alexandra L Joyner; Emma L Duncan; Douglas P Kiel; Fernando Rivadeneira; J Brent Richards
Journal:  Nature       Date:  2015-09-14       Impact factor: 49.962

4.  A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans.

Authors:  Nicholas J Timpson; Klaudia Walter; Josine L Min; Ioanna Tachmazidou; Giovanni Malerba; So-Youn Shin; Lu Chen; Marta Futema; Lorraine Southam; Valentina Iotchkova; Massimiliano Cocca; Jie Huang; Yasin Memari; Shane McCarthy; Petr Danecek; Dawn Muddyman; Massimo Mangino; Cristina Menni; John R B Perry; Susan M Ring; Amadou Gaye; George Dedoussis; Aliki-Eleni Farmaki; Paul Burton; Philippa J Talmud; Giovanni Gambaro; Tim D Spector; George Davey Smith; Richard Durbin; J Brent Richards; Steve E Humphries; Eleftheria Zeggini; Nicole Soranzo
Journal:  Nat Commun       Date:  2014-09-16       Impact factor: 14.919

5.  An interactive genome browser of association results from the UK10K cohorts project.

Authors:  Matthias Geihs; Ying Yan; Klaudia Walter; Jie Huang; Yasin Memari; Josine L Min; Daniel Mead; Tim J Hubbard; Nicholas J Timpson; Thomas A Down; Nicole Soranzo
Journal:  Bioinformatics       Date:  2015-08-26       Impact factor: 6.937

6.  The UK10K project identifies rare variants in health and disease.

Authors:  Klaudia Walter; Josine L Min; Jie Huang; Lucy Crooks; Yasin Memari; Shane McCarthy; John R B Perry; ChangJiang Xu; Marta Futema; Daniel Lawson; Valentina Iotchkova; Stephan Schiffels; Audrey E Hendricks; Petr Danecek; Rui Li; James Floyd; Louise V Wain; Inês Barroso; Steve E Humphries; Matthew E Hurles; Eleftheria Zeggini; Jeffrey C Barrett; Vincent Plagnol; J Brent Richards; Celia M T Greenwood; Nicholas J Timpson; Richard Durbin; Nicole Soranzo
Journal:  Nature       Date:  2015-09-14       Impact factor: 49.962

  6 in total

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