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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
Resource

A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree

  • Michael A. Eberle
  • Epameinondas Fritzilas
  • Peter Krusche
  • Morten Källberg
  • Benjamin L. Moore
  • Mitchell A. Bekritsky Zamin Iqbal Han-Yu Chuang Sean J. Humphray Aaron L. Halpern
  • ... [+5 authors] ...,
  • Semyon Kruglyak
  • Elliott H. Margulies
  • Gil McVean
  • David R. Bentley
  • First Published November 30, 2016
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