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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Evaluating novel dosage sensitivity predictors for ...
Evaluating novel dosage sensitivity predictors for inclusion in the classification of recurrent copy number variants
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The document discusses the evaluation of dosage sensitivity predictors for the classification of recurrent copy number variants (CNVs). The study aimed to assess the utility of current and novel dosage sensitivity predictors in clinical CNV classification.<br /><br />The document provides tables and figures presenting the currently available dosage sensitivity predictors, including the Haploinsufficiency (HI) predictor, with specific cutoff values for different dosage predictors. It also includes a dosage sensitivity metric for recurrent CNV regions, with different evidence types and point requirements for scoring.<br /><br />The study evaluated the impact of incorporating the novel dosage sensitivity predictors, pHaplo and pTriplo, into the recurrent CNV metric. The results showed that using pHaplo as a measure for established dosage sensitive genes associated with early onset/highly penetrant conditions was more suitable than using the percentage of HI. Incorporating pTriplo into the metric resulted in some regions being scored more consistently and discrepancies with current scoring.<br /><br />However, the study also mentioned that additional regions and genes would need to be reviewed before incorporating pTriplo into the metric due to the lack of a secondary method to confirm its accuracy.<br /><br />Overall, the document provides information on the evaluation of dosage sensitivity predictors for the classification of recurrent CNVs and discusses the potential implications of incorporating novel predictors into the clinical CNV classification process.
Asset Subtitle
Presenting Author - John Herriges, PhD; Co-Author - Cassandra K. Runke, MS; Co-Author - Zoe K. Lewis, MS, CGC; Co-Author - Lucilla Pizzo, PhD; Co-Author - Bradley Coe, PhD; Co-Author - Laura K. Conlin, PhD; Co-Author - Benjamin A. Hilton, PhD; Co-Author - Brynn Levy, M.Sc.(Med).,PhD.; Co-Author - Andrea K. Vaags, PhD; Co-Author - Shulin Zhang, Ph.D.; Co-Author - Christa L. Martin; Co-Author - Erica F. Andersen, PhD, FACMG;
Meta Tag
Microarray
Molecular Cytogenetics
Co-Author
Cassandra K. Runke, MS
Co-Author
Zoe K. Lewis, MS, CGC
Co-Author
Lucilla Pizzo, PhD
Co-Author
Bradley Coe, PhD
Co-Author
Laura K. Conlin, PhD
Co-Author
Benjamin A. Hilton, PhD
Co-Author
Brynn Levy, M.Sc.(Med).,PhD.
Co-Author
Andrea K. Vaags, PhD
Co-Author
Shulin Zhang, Ph.D.
Co-Author
Christa L. Martin
Co-Author
Erica F. Andersen, PhD, FACMG
Presenting Author
John Herriges, PhD
Keywords
dosage sensitivity predictors
CNV classification
recurrent copy number variants
clinical
current predictors
novel predictors
Haploinsufficiency predictor
dosage sensitivity metric
pHaplo
pTriplo
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