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A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease
Genetics
Molecular Biology
Plant Science
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Authors
Damian Smedley
,
Max Schubach
Julius Jacobsen
,
Sebastian Köhler
,
Tomasz Żemojtel
,
Malte Spielmann
,
Marten Jäger
,
Harry Hochheiser
,
Nicole Washington
,
Julie McMurry
,
Melissa Haendel
,
Chris Mungall
,
Suzanna Lewis
,
Tudor Groza
,
Giorgio Valentini
+13 authors
,
Peter Robinson
Journal
The American Journal of Human Genetics
Published
Aug 31, 2016
DOI
10.1016/j.ajhg.2016.07.005
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