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Paper Details

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
Genome Med
42
2021
Author NameAffiliation
Francisco M De La VegaFabric Genomics Inc.
Francisco M De La VegaStanford University School of Medicine
Francisco M De La VegaCurrent Address: Tempus Labs Inc.
Erwin FriseFabric Genomics Inc.
Jeanette J McCarthyFabric Genomics Inc.
Pankaj B AgrawalThe Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School
Pankaj B AgrawalBoston Children's Hospital
Casie A GenettiThe Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School
Catherine A BrownsteinThe Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School
Catherine A BrownsteinThe Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School
Alan H BeggsThe Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School
Andre FrankeInstitute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel & University Hospital Schleswig-Holstein
Andre FrankeInstitute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel & University Hospital Schleswig-Holstein
Braden BooneHudsonAlpha Institute for Biotechnology
Braden BooneHudsonAlpha Institute for Biotechnology
Shawn LevyHudsonAlpha Institute for Biotechnology
Shawn LevyHudsonAlpha Institute for Biotechnology
Matthew J HuentelmanCenter for Rare Childhood Disorders, Translational Genomics Research Institute
Ashok VeeraraghavanRady Children's Institute for Genomic Medicine
Martin G ReeseFabric Genomics Inc.
Mark YandellFabric Genomics Inc.
Mark YandellUtah Center for Genetic Discovery, University of Utah
Mark YandellFabric Genomics Inc.
Mark YandellUtah Center for Genetic Discovery, University of Utah
Stephen F KingsmoreRady Children's Institute for Genomic Medicine
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