Kristen Rasmussen

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

Sarah Barnett, Anna Essendrup, Kristen 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 …

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

Kristen 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 …

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P662: Clinical utility of exome and genome sequencing in an adult cohort referred for suspicion of underlying rare disease

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

P707: Additional evidence supporting and expanding the phenotype associated with MED12L loss-of-function variants

Kristen Rasmussen, Cassandra Runke, Sarah Barnett, Hutton M. Kearney et autres

A recent publication described 7 individuals with novel variants in MED12L (HGNC:16050). The authors proposed that haploinsufficiency of MED12L is associated with a variable phenotype that includes intellectual disability, behavioral abnormalities, and less commonly; structural brain abnormalities, gastrointestinal issues, ophthalmologic features, skeletal …

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The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

Heidi L. Rehm, Joseph T. Alaimo, Swaroop Aradhya, Pınar Bayrak‐Toydemir et autres

us, ca (code pays fourni par la source)

Clinical Validation of Tagmentation-Based Genome Sequencing for Germline Disorders

Wei Shen, Heidi L Sellers, Lauren A. Choate, Mariam I. Stein et autres

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Impact of integrated translational research on clinical exome sequencing

Eric W. Klee, Margot A. Cousin, Filippo Pinto e Vairo, Joel A. Morales‐Rosado et autres

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

Heidi L. Rehm, Joseph T. Alaimo, Swaroop Aradhya, Pınar Bayrak‐Toydemir et autres

Abstract PURPOSE Variants of uncertain significance (VUS) are a common result of diagnostic genetic testing and can be difficult to manage with potential misinterpretation and downstream costs, including time investment by clinicians. We investigated the rate of VUS reported on diagnostic testing …

us, ca (code pays fourni par la source)

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

Sarah Stephenson, Gregory Costain, Laura E.R. Blok, Michael Silk et autres

au, ca, nl, us, ie, il, fr, jp, is, it, gb (code pays fourni par la source)

OP040: Clinical validation of tagmentation-based genome sequencing for germline disorders

Heidi Sellers, Mariam I. Stein, Pratyush Tandale, Jiayu Tan et autres

us (code pays fourni par la source)

De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy

Muhammad A. Usmani, Zubair M. Ahmed, Pamela Magini, Victor Murcia Pienkowski et autres

us, pk, it, pl, de, nl (code pays fourni par la source)

Impact of integrated translational research on clinical exome sequencing

Eric W. Klee, Margot A. Cousin, Filippo Pinto e Vairo, Joel A. Morales‐Rosado et autres

us, ca (code pays fourni par la source)