Publications
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE
Automated variant prioritization system, a breakthrough in the field of rare disease diagnosis Among the 7,000 or more Mendelian diseases identified worldwide so far, more…
Publications
Diagnostic performance of exome analysis in patients with neurodevelopmental delay
A paper on the use of an automated, streamlined daily update & reanalysis system at 3billion, in effect since April 2021, has been published in Molecular…
Publications
Powerful use of automated prioritization of candidate variants in genetic hearing loss
A new collaborative research article between Dr. Byung Yoon Choi’s research team from Seoul National University Bundang Hospital and 3billion was recently published in Scientific…