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Paper Details

Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation.
Cell Genom
16
2022
genes, monogenic gene, patients
Author NameAffiliation
Courtney ThaxtonUniversity of North Carolina
Courtney Thaxton
Jennifer L GoldsteinUniversity of North Carolina
Marina T DiStefano
Kathleen WallaceUniversity of North Carolina
Philip D WitmerJohns Hopkins Genomics, Johns Hopkins University
Melissa A HaendelCenter for Health AI, University of Colorado Anschutz Medical Campus
Melissa A HaendelCenter for Health AI, University of Colorado Anschutz Medical Campus
Ada HamoshJohns Hopkins University
Heidi L RehmCenter for Genomic Medicine, Massachusetts General Hospital
Heidi L RehmBroad Institute of MIT and Harvard
Heidi L RehmCenter for Genomic Medicine, Massachusetts General Hospital
Heidi L RehmBroad Institute of MIT and Harvard
Jonathan S BergUniversity of North Carolina
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