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James R. Downing
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Pediatric Cancer Variant Pathogenicity Information Exchange (PeCanPIE): a cloud-based platform for curating and classifying germline variants
Michael N. Edmonson
,
Aman N. Patel
,
Dale J. Hedges
,
Zhaoming Wang
,
Evadnie Rampersaud
,
Chimene A. Kesserwan
,
Xin Zhou
,
Yanling Liu
,
Scott Newman
,
Michael C. Rusch
,
Clay L. McLeod
,
Mark R. Wilkinson
,
Stephen V. Rice
,
Thierry Soussi
,
J. Paul Taylor
,
Michael Benatar
,
Jared B. Becksfort
,
Kim E. Nichols
,
Leslie L. Robison
,
James R. Downing
,
and
Jinghui Zhang
Genome Res.
September 2019
29
:
1555
-
1565
;
Published in Advance
August 22, 2019
,
doi:
10.1101/gr.250357.119
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Research
:
Rare allelic forms of
PRDM9
associated with childhood leukemogenesis
Julie Hussin
,
Daniel Sinnett
,
Ferran Casals
,
Youssef Idaghdour
,
Vanessa Bruat
,
Virginie Saillour
,
Jasmine Healy
,
Jean-Christophe Grenier
,
Thibault de Malliard
,
Stephan Busche
,
Jean-François Spinella
,
Mathieu Larivière
,
Greg Gibson
,
Anna Andersson
,
Linda Holmfeldt
,
Jing Ma
,
Lei Wei
,
Jinghui Zhang
,
Gregor Andelfinger
,
James R. Downing
,
Charles G. Mullighan
,
and
Philip Awadalla
Genome Res.
March 2013
23
:
419
-
430
;
Published in Advance
December 5, 2012
,
doi:
10.1101/gr.144188.112
Abstract
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Single-cell gene signature scoring
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Convergent evolution in arid rodents
Short tandem repeat genotyping using long reads
Spectral component approach for recent population structure
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