Last Updated: 09/26/2026
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Found 46 publications
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria.
Journal: bioRxiv : the preprint server for biology
Published: September 30, 2024
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 26, 2024
Functional Characterization of a Genetic Variant in the 5' UTR of APC 1B Promoter in a Familial Adenomatous Polyposis Family.
Journal: American journal of medical genetics. Part A
Published: September 01, 2024
Improving transparency of computational tools for variant effect prediction.
Journal: Nature genetics
Published: July 02, 2024
Phenotype correlations with pathogenic DNA variants in the MUTYH gene.
Journal: medRxiv : the preprint server for health sciences
Published: May 27, 2024
Systematic large-scale application of ClinGen InSiGHT APC -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases.
Journal: medRxiv : the preprint server for health sciences
Published: May 15, 2024
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.
Journal: American journal of human genetics
Published: April 14, 2024
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations.
Journal: medRxiv : the preprint server for health sciences
Published: March 18, 2024
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 11, 2024
Phenotype Correlations With Pathogenic DNA Variants in the MUTYH Gene: A Review of Over 2000 Cases.
Journal: Human mutation
Published: September 04, 2023
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 14, 2023
Last Updated: 09/26/2026