Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Jenny C Taylor,Hilary C Martin,Stefano Lise,John Broxholme,Jean-Baptiste Cazier,Andy Rimmer,Alexander Kanapin,Gerton Lunter,Simon Fiddy,Chris Allan,A Radu Aricescu,Moustafa Attar,Christian Babbs,Jennifer Becq,David Beeson,Celeste Bento,Patricia Bignell,Edward Blair,Veronica J Buckle,Katherine Bull,Ondrej Cais,Holger Cario,Helen Chapel,Richard R Copley,Richard Cornall,Jude Craft,Karin Dahan,Emma E Davenport,Calliope Dendrou,Olivier Devuyst,Aimée L Fenwick,Jonathan Flint,Lars Fugger,Rodney D Gilbert,Anne Goriely,Angie Green,Ingo H Greger,Russell Grocock,Anja V Gruszczyk,Robert Hastings, Edouard Hatton,Doug Higgs,Adrian Hill,Chris Holmes,Malcolm Howard,Linda Hughes,Peter Humburg,David Johnson,Fredrik Karpe,Zoya Kingsbury,Usha Kini,Julian C Knight, Jonathan Krohn,Sarah Lamble,Craig Langman,Lorne Lonie,Joshua Luck,Davis McCarthy,Simon J McGowan,Mary Frances McMullin,Kerry A Miller,Lisa Murray,Andrea H Németh,M Andrew Nesbit,David Nutt,Elizabeth Ormondroyd,Annette Bang Oturai,Alistair Pagnamenta,Smita Y Patel,Melanie Percy,Nayia Petousi,Paolo Piazza,Sian E Piret, Guadalupe Polanco-Echeverry,Niko Popitsch,Fiona Powrie,Chris Pugh,Lynn Quek,Peter A Robbins,Kathryn Robson,Alexandra Russo,Natasha Sahgal,Pauline A van Schouwenburg,Anna Schuh,Earl Silverman,Alison Simmons,Per Soelberg Sørensen,Elizabeth Sweeney,John Taylor,Rajesh V Thakker,Ian Tomlinson,Amy Trebes,Stephen R F Twigg,Holm H Uhlig,Paresh Vyas,Tim Vyse,Steven A Wall,Hugh Watkins,Michael P Whyte, Lorna Witty,Ben Wright,Chris Yau,David Buck,Sean Humphray,Peter J Ratcliffe,John I Bell,Andrew O M Wilkie,David Bentley,Peter Donnelly, Gilean McVean

NATURE GENETICS（2015）

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摘要

Gilean McVean and colleagues report the results of a large-scale clinical genome sequencing project spanning a broad spectrum of disorders. They identify factors influencing successful genetic diagnosis and highlight the challenges of interpreting findings for genetically heterogeneous disorders.

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关键词

DNA sequencing,Genetics research,Medical genetics,Biomedicine,general,Human Genetics,Cancer Research,Agriculture,Gene Function,Animal Genetics and Genomics

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