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Rosa Rademakers
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Displaying results 1-3 of
3
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:
Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR
Wouter De Coster
,
Ida Höijer
,
Inge Bruggeman
,
Svenn D'Hert
,
Malin Melin
,
Adam Ameur
,
and
Rosa Rademakers
Genome Res.
November 2024
34
:
2074
-
2080
;
Published in Advance
August 15, 2024
,
doi:
10.1101/gr.279265.124
Abstract
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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
,
The US–Venezuela Collaborative Research Group
,
David E. Housman
,
Christopher W. Ng
,
Alina L. Li
,
Ryan J. Taft
,
Leonard H. van den Berg
,
David R. Bentley
,
Jan H. Veldink
,
and
Michael A. Eberle
Genome Res.
November 2017
27
:
1895
-
1903
;
Published in Advance
September 8, 2017
,
doi:
10.1101/gr.225672.117
Abstract
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RESOURCE
:
novoSNP, a novel computational tool for sequence variation discovery
Stefan Weckx
,
Jurgen Del-Favero
,
Rosa Rademakers
,
Lieve Claes
,
Marc Cruts
,
Peter De Jonghe
,
Christine Van Broeckhoven
,
and
Peter De Rijk
Genome Res.
March 2005
15
:
436
-
442
;
doi:
10.1101/gr.2754005
Abstract
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