J
Joshua M. Korn
Researcher at Novartis
Publications - 62
Citations - 21860
Joshua M. Korn is an academic researcher from Novartis. The author has contributed to research in topics: Genome-wide association study & Copy-number variation. The author has an hindex of 36, co-authored 59 publications receiving 19188 citations. Previous affiliations of Joshua M. Korn include Harvard University & Broad Institute.
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Journal ArticleDOI
Integrating common and rare genetic variation in diverse human populations
David Altshuler,Richard A. Gibbs,Leena Peltonen,Emmanouil T. Dermitzakis,Stephen F. Schaffner,Fuli Yu,Penelope E. Bonnen,de Bakker Piw.,Panagiotis Deloukas,Stacey Gabriel,R. Gwilliam,Sarah E. Hunt,Michael Inouye,Xiaoming Jia,Aarno Palotie,Melissa Parkin,Pamela Whittaker,Kyle Chang,Alicia Hawes,Lora Lewis,Yanru Ren,D Wheeler,Donna M. Muzny,Chris P. Barnes,Katayoon Darvishi,Matthew E. Hurles,Joshua M. Korn,K. Kristiansson,Charles Lee,S A McCarrol,James Nemesh,Alon Keinan,Stephen B. Montgomery,Samuela Pollack,Alkes L. Price,Nicole Soranzo,Claudia Gonzaga-Jauregui,Verneri Anttila,Wendy Brodeur,Mark J. Daly,Stephen Leslie,Gil McVean,Loukas Moutsianas,Huy Nguyen,Qingrun Zhang,Ghori Mjr.,Ralph McGinnis,William M. McLaren,Fumihiko Takeuchi,Sharon R. Grossman,Ilya Shlyakhter,Elizabeth Hostetter,Pardis C. Sabeti,Clement Adebamowo,Morris W. Foster,Deborah R. Gordon,Julio Licinio,M C Manca,Patricia A. Marshall,Ichiro Matsuda,D Ngare,Vivian Ota Wang,D Reddy,Charles N. Rotimi,Charmaine D.M. Royal,Richard R. Sharp,Changqing Zeng,Lisa D. Brooks,Jean E. McEwen +68 more
TL;DR: An expanded public resource of genome variants in global populations supports deeper interrogation of genomic variation and its role in human disease, and serves as a step towards a high-resolution map of the landscape of human genetic variation.
Journal ArticleDOI
Next-generation characterization of the Cancer Cell Line Encyclopedia
Mahmoud Ghandi,Franklin W. Huang,Franklin W. Huang,Franklin W. Huang,Judit Jané-Valbuena,Judit Jané-Valbuena,Gregory V. Kryukov,Christopher Lo,E. Robert McDonald,Jordi Barretina,Ellen Gelfand,Craig M. Bielski,Haoxin Li,Haoxin Li,Kevin Hu,Alexander Y. Andreev-Drakhlin,Jaegil Kim,Julian M. Hess,Brian J. Haas,François Aguet,Barbara A. Weir,Michael V. Rothberg,Brenton R. Paolella,Michael S. Lawrence,Rehan Akbani,Yiling Lu,Hong L. Tiv,Prafulla C. Gokhale,Antoine de Weck,Ali Amin Mansour,Coyin Oh,Juliann Shih,Kevin Hadi,Yanay Rosen,Jonathan Bistline,Kavitha Venkatesan,Anupama Reddy,Dmitriy Sonkin,Dmitriy Sonkin,Manway Liu,Joseph Lehar,Joshua M. Korn,Dale Porter,Michael D. Jones,Javad Golji,Giordano Caponigro,Jordan E. Taylor,Caitlin M. Dunning,Amanda L. Creech,Allison Warren,James M. McFarland,Mahdi Zamanighomi,Audrey Kauffmann,Nicolas Stransky,Marcin Imielinski,Yosef E. Maruvka,Yosef E. Maruvka,Andrew D. Cherniack,Andrew D. Cherniack,Aviad Tsherniak,Francisca Vazquez,Jacob D. Jaffe,Andrew A. Lane,David M. Weinstock,Cory M. Johannessen,Michael Morrissey,Frank Stegmeier,Robert Schlegel,William C. Hahn,William C. Hahn,Gad Getz,Gordon B. Mills,Jesse S. Boehm,Todd R. Golub,Todd R. Golub,Todd R. Golub,Levi A. Garraway,Levi A. Garraway,William R. Sellers,William R. Sellers +79 more
TL;DR: The original Cancer Cell Line Encyclopedia is expanded with deeper characterization of over 1,000 cell lines, including genomic, transcriptomic, and proteomic data, and integration with drug-sensitivity and gene-dependency data, which reveals potential targets for cancer drugs and associated biomarkers.
Journal ArticleDOI
Association between Microdeletion and Microduplication at 16p11.2 and Autism
Lauren A. Weiss,Yiping Shen,Joshua M. Korn,Joshua M. Korn,Dan E. Arking,David T. Miller,Ragnheidur Fossdal,Evald Saemundsen,Hreinn Stefansson,Todd Green,Todd Green,Orah S. Platt,Douglas M. Ruderfer,Douglas M. Ruderfer,Christopher A. Walsh,David Altshuler,David Altshuler,Aravinda Chakravarti,Aravinda Chakravarti,Rudolph E. Tanzi,Kari Stefansson,Susan L. Santangelo,James F. Gusella,James F. Gusella,Pamela Sklar,Pamela Sklar,Bai-Lin Wu,Mark J. Daly,Mark J. Daly +28 more
TL;DR: A novel, recurrent microdeletion and a reciprocal microduplication that carry substantial susceptibility to autism and appear to account for approximately 1% of cases are identified.
Journal ArticleDOI
Rare chromosomal deletions and duplications increase risk of schizophrenia
Jennifer Stone,Jennifer Stone,Jennifer Stone,Michael Conlon O'Donovan,Hugh Gurling,George Kirov,Douglas Blackwood,Aiden Corvin,Nicholas John Craddock,Michael Gill,Christina M. Hultman,Christina M. Hultman,Paul Lichtenstein,Andrew McQuillin,Carlos N. Pato,Douglas M. Ruderfer,Douglas M. Ruderfer,Douglas M. Ruderfer,Michael John Owen,David St Clair,Patrick F. Sullivan,Pamela Sklar,Pamela Sklar,Pamela Sklar,Shaun Purcell,Shaun Purcell,Shaun Purcell,Joshua M. Korn,Joshua M. Korn,Stuart MacGregor,Derek W. Morris,Colm O'Dushlaine,Mark J. Daly,Mark J. Daly,Mark J. Daly,Peter M. Visscher,Peter Holmans,Edward M. Scolnick,Edward M. Scolnick,Nigel Williams,Lucy Georgieva,Ivan Nikolov,Nadine Norton,Hywel Williams,Draga Toncheva,Vihra Milanova,Emma Flordal Thelander,Patrick Sullivan,Elaine Kenny,John L. Waddington,Khalid Choudhury,Susmita Datta,Jonathan Pimm,Srinivasa Thirumalai,Vinay Puri,Robert Krasucki,Jacob Lawrence,Digby Quested,Nicholas Bass,David Curtis,Caroline Crombie,Gillian Fraser,Soh Leh Kwan,Nicholas Walker,Walter J. Muir,Kevin A. McGhee,Ben S. Pickard,P. Malloy,Alan W Maclean,Margaret Van Beck,Michele T. Pato,Helena Medeiros,Frank A. Middleton,Célia Barreto Carvalho,Christopher P. Morley,Ayman H. Fanous,David V. Conti,James A. Knowles,Carlos Ferreira,António Macedo,M. Helena Azevedo,Steve McCarroll,Steve McCarroll,Mark J. Daly,Mark J. Daly,Mark J. Daly,Kimberly Chambert,Kimberly Chambert,Casey Gates,Stacey Gabriel,Scott Mahon,Kristen Ardlie +91 more
TL;DR: A genome-wide survey of rare CNVs in 3,391 patients with schizophrenia and 3,181 ancestrally matched controls provides strong support for a model of schizophrenia pathogenesis that includes the effects of multiple rare structural variants, both genome- wide and at specific loci.
Journal ArticleDOI
Mapping and sequencing of structural variation from eight human genomes
Jeffrey M. Kidd,Gregory M. Cooper,William F. Donahue,Hillary S. Hayden,Nick Sampas,Tina Graves,Nancy F. Hansen,Brian Teague,Can Alkan,Francesca Antonacci,Eric Haugen,Troy Zerr,N. Alice Yamada,Peter Tsang,Tera L. Newman,Eray Tüzün,Ze Cheng,Heather Ebling,Nadeem Tusneem,Robert David,Will D. Gillett,Karen A. Phelps,Molly Weaver,David J. Saranga,Adrianne Brand,Wei Tao,Erik Gustafson,Kevin McKernan,Lin Chen,Maika Malig,Joshua D. Smith,Joshua M. Korn,Steven A. McCarroll,David Altshuler,Daniel A. Peiffer,Michael O. Dorschner,John A. Stamatoyannopoulos,David C. Schwartz,Deborah A. Nickerson,James C. Mullikin,Richard K. Wilson,Laurakay Bruhn,Maynard V. Olson,Rajinder Kaul,Douglas R. Smith,Evan E. Eichler +45 more
TL;DR: This work employs a clone-based method to interrogate intermediate structural variation in eight individuals of diverse geographic ancestry and provides the first high-resolution sequence map of human structural variation—a standard for genotyping platforms and a prelude to future individual genome sequencing projects.