Heather Zimmermann

Variant-specific RNA testing resolves variants of uncertain significance in exome testing

Audrey K. O’Neill, Grace E. VanNoy, Brooklynn Gasser, Jessica Gage et autres

us (code pays fourni par la source)

RNA-guided clarity: The potential for resolving variant uncertainty in clinical exome sequencing

Grace E. VanNoy, Catherine Schultz, Brooklynn Gasser, Jessica Gage et autres

us (code pays fourni par la source)

A Plot Twist: When RNA Yields Unexpected Findings in Paired DNA-RNA Germline Genetic Testing

Heather Zimmermann, Terra Brannan, Colin C. Young, Jesus Ramirez Castano et autres

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P290: RNA and reclassification: Assessing RNA data in rare disease

Grace E. VanNoy, Jessica Grzybowski, Shoji Ichikawa, Emily Kudalkar et autres

us (code pays fourni par la source)

P644: Unlocking the code: When SpliceAI falls short in variant assessment

Jessica Grzybowski, Meghan C. Towne, Brooklynn Gasser, Melissa Samons et autres

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Diagnostic Outcomes of Concurrent DNA and RNA Sequencing in Individuals Undergoing Hereditary Cancer Testing

Carolyn Horton, Lily Hoang, Heather Zimmermann, Colin C. Young et autres

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Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup

Logan C. Walker, Miguel de la Hoya, George A. R. Wiggins, Amanda Lindy et autres

nz, es, us, au (code pays fourni par la source)

APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP

Logan C. Walker, Miguel de la Hoya, George A. R. Wiggins, Amanda Lindy et autres

nz, es, us, au (code pays fourni par la source)

P575: Variant reclassification in a large cardiogenetic testing cohort: The importance of disease-specific variant classification criteria*

Meghan C. Towne, Melissa Holman, Margo Gallegos, Heather Workman et autres

P545: A plot twist: When RNA evidence challenges our expectations of DNA results

Alexandra Richardson, Terra Brannan, Colin N. Young, Jessica Grzybowski et autres

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Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer

Carolyn Horton, Ashley Cass, Blair R. Conner, Lily Hoang et autres

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Three Newly Recognized Likely Pathogenic Gene Variants Associated with Hereditary Transthyretin Amyloidosis

J. Patel, Andrew M. Rosen, Adam Chamberlin, Benjamin Feldmann et autres

us (code pays fourni par la source)