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Paper Details

Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.
Am J Hum Genet
55
2015
exome cohort, exon, genomes, pLOF mutation, pLOF variant, pLOF variants, participants, variants
Author NameAffiliation
Jennifer J JohnstonNational Human Genome Research Institute
Jennifer J JohnstonNational Human Genome Research Institute
Katie L LewisNational Human Genome Research Institute
Larry N SinghNational Human Genome Research Institute
Larry N SinghNational Human Genome Research Institute
Carmen C BrewerNational Institute for Deafness and Other Communication Disorders
Brian P BrooksNational Eye Institute
Kristina I RotherNational Institute of Diabetes and Digestive and Kidney Diseases
Benjamin D SolomonNational Human Genome Research Institute
David N CooperInstitute of Medical Genetics, Cardiff University
David N CooperInstitute of Medical Genetics, Cardiff University
Peter D StensonInstitute of Medical Genetics, Cardiff University
James C MullikinNational Human Genome Research Institute, USA NIH Intramural Sequencing Center
James C MullikinNational Human Genome Research Institute, USA NIH Intramural Sequencing Center
Leslie G BieseckerNational Human Genome Research Institute, USA NIH Intramural Sequencing Center
Leslie G BieseckerNational Human Genome Research Institute, USA NIH Intramural Sequencing Center
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Release 1.2