Daniel Traviglia
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View article: Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations Open
Genomics for rare disease diagnosis has advanced at a rapid pace due to our ability to perform in-depth analyses on individual patients with ultra-rare diseases. The increasing sizes of ultra-rare disease cohorts internationally newly enab…
View article: Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations Open
Genomics for rare disease diagnosis has advanced at a rapid pace due to our ability to perform "N-of-1" analyses on individual patients with ultra-rare diseases. The increasing sizes of ultra-rare disease cohorts internationally newly enab…