Summary of Clinical Variants Analyzed for Underdiagnosis

Published: 2 May 2023| Version 1 | DOI: 10.17632/c2g66gycvx.1
Contributor:
Iain Forrest

Description

From Forrest et al., "Genome-first evaluation with exome sequence and clinical data uncovers underdiagnosed genetic disorders in a large healthcare system" (Cell Reports Medicine, 2023)

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Institutions

Icahn School of Medicine at Mount Sinai

Categories

Genomics, Clinical Genomics, Diagnosis, Human Genetics, Electronic Health Record, Exome Sequencing, Precision Medicine

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