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Method

Detection of long repeat expansions from PCR-free whole-genome sequence data

Egor Dolzhenko
Joke J.F.A. van Vugt
Richard J. Shaw
Mitchell A. Bekritsky
Marka van Blitterswijk
Giuseppe Narzisi Subramanian S. Ajay Vani Rajan Bryan R. Lajoie Nathan H. Johnson Zoya Kingsbury Sean J. Humphray Raymond D. Schellevis William J. Brands Matt Baker Rosa Rademakers Maarten Kooyman Gijs H.P. Tazelaar Michael A. van Es Russell McLaughlin William Sproviero Aleksey Shatunov Ashley Jones Ahmad Al Khleifat Alan Pittman Sarah Morgan Orla Hardiman Ammar Al-Chalabi Chris Shaw Bradley Smith Edmund J. Neo Karen Morrison Pamela J. Shaw Catherine Reeves Lara Winterkorn Nancy S. Wexler David E. Housman Christopher W. Ng Alina L. Li Ryan J. Taft
... [+35 authors] ...,
Leonard H. van den Berg
David R. Bentley
Jan H. Veldink
Michael A. Eberle

First Published September 8, 2017

Method

INTEGRATE: gene fusion discovery using whole genome and transcriptome data

Jin Zhang
Nicole M. White
Heather K. Schmidt
Robert S. Fulton
Chad Tomlinson
Wesley C. Warren
Richard K. Wilson
Christopher A. Maher

First Published November 10, 2015

Method

Reconstructing complex regions of genomes using long-read sequencing technology

John Huddleston
Swati Ranade
Maika Malig
Francesca Antonacci
Mark Chaisson
Lawrence Hon Peter H. Sudmant Tina A. Graves Can Alkan Megan Y. Dennis
... [+5 authors] ...,
Richard K. Wilson
Stephen W. Turner
Jonas Korlach
Evan E. Eichler

First Published January 13, 2014