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Paper Details

Targeted long-read sequencing identifies missing disease-causing variation.
Am J Hum Genet
92
2021
151 Mbp, Mendelian conditions, genetic conditions, high-priority genes, recessive disorders
Author NameAffiliation
Tom WalshUniversity of Washington School of Medicine, University of Washington
Tom WalshUniversity of Washington School of Medicine, University of Washington
Karynne E PattersonUniversity of Washington School of Medicine
Emily S BonkowskiUniversity of Washington and Seattle Children's Hospital
Robin L BennettUniversity of Washington
Dawn EarlUniversity of Washington and Seattle Children's Hospital
Rando AllikmetsColumbia University
Alexias SafiDuke University
Timothy E ReddyDuke University Durham
Andrew S AllenDuke University Durham
Gregory E CrawfordDuke University
Gregory E CrawfordDuke University
Mary-Claire KingUniversity of Washington School of Medicine, University of Washington
Mary-Claire KingUniversity of Washington School of Medicine, University of Washington
Timothy J CherryCenter for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute
Jessica X ChongUniversity of Washington and Seattle Children's Hospital, USA Brotman Baty Institute for Precision Medicine
Jessica X ChongUniversity of Washington and Seattle Children's Hospital, USA Brotman Baty Institute for Precision Medicine
Michael J BamshadUniversity of Washington School of Medicine, University of Washington and Seattle Children's Hospital, USA Brotman Baty Institute for Precision Medicine
Michael J BamshadUniversity of Washington School of Medicine, University of Washington and Seattle Children's Hospital, USA Brotman Baty Institute for Precision Medicine
Deborah A NickersonUniversity of Washington School of Medicine, USA Brotman Baty Institute for Precision Medicine
Deborah A NickersonUniversity of Washington School of Medicine, USA Brotman Baty Institute for Precision Medicine
Dan DohertyUniversity of Washington and Seattle Children's Hospital, USA Brotman Baty Institute for Precision Medicine
Evan E EichlerUniversity of Washington School of Medicine, USA Brotman Baty Institute for Precision Medicine, USA Howard Hughes Medical Institute, University of Washington
Evan E EichlerUniversity of Washington School of Medicine, USA Brotman Baty Institute for Precision Medicine, USA Howard Hughes Medical Institute, University of Washington
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