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Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
Biology
Bioinformatics
Genetics
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Authors
Laure Frésard
,
Craig Smail
Nicole Ferraro
,
Nicole Teran
,
Xin Li
,
Kevin Smith
,
Devon Bonner
,
Kristin Kernohan
,
Shruti Marwaha
,
Zachary Zappala
,
Brunilda Balliu
,
Joe Davis
,
Boxiang Liu
,
Cameron Prybol
,
Jennefer Kohler
,
Diane Zastrow
,
Chloe Reuter
,
Dianna Fisk
,
Megan Grove
,
Jean Davidson
,
Taila Hartley
,
Ruchi Joshi
,
Benjamin Strober
,
Sowmithri Utiramerur
,
Lars Lind
,
Erik Ingelsson
,
Alexis Battle
,
Gill Bejerano
,
Jonathan Bernstein
,
Euan Ashley
,
Kym Boycott
,
Jason Merker
,
Matthew Wheeler
+31 authors
,
Stephen Montgomery
Journal
Nature Medicine
Published
Jun 1, 2019
DOI
10.1038/s41591-019-0457-8
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