Profil bibliographique

Sarah Barnett

Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.

2Publications signalées

0Citations signalées

2Affiliations récentes

Les institutions déclarées

Les domaines associés

Genomics and Rare DiseasesGenetic Associations and EpidemiologyGenomic variations and chromosomal abnormalitiesCancer Genomics and DiagnosticsNeurogenetic and Muscular Disorders Research

Les publications récentes

Accès ouvert 2026 conference-abstract OpenAlex

P604: Evaluating AI-assisted phenotyping for variant prioritization in clinical laboratory genome/exome workflows

Sarah Barnett, Anna A. Essendrup, Kristen J. Rasmussen, Nicole J. Boczek et autres

For exome and genome sequencing, accurate phenotypic representation is critical for variant prioritization in genomic analysis. While clinical summaries and HPO terms are traditionally generated manually, this is a time-consuming and subjective process. Emerging artificial intelligence (AI) tools offer automated alternatives. GOATT …

us (code pays fourni par la source)

0 citations Genetics in Medicine Open

Accès ouvert 2026 conference-abstract OpenAlex

P641: Rapid genome sequencing outside of the NICU: Utilization in pediatric and adult practices

Kristen J. Rasmussen, Sarah Barnett, Marissa S. Ellingson, Cassandra Runke et autres

Genome sequencing (GS) has become a common tool in the diagnosis of rare disease. The ability to perform GS rapidly (rGS) has proven benefits in situations where a diagnosis can have immediate implications for treatment or decision-making. There is ample evidence supporting …

us (code pays fourni par la source)

0 citations Genetics in Medicine Open

Notice OpenAlex

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