Marc S. Greenblatt

Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria

The paper calibrates three new computational tools for clinical variant classification, finding they provide evidence strength comparable to previously recommended tools.

Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations

The paper assesses rare missense variants in genome sequences using PP3/BP4 evidence strength classifications and finds few variants meet strong or moderate criteria.

Phenotype correlations with pathogenic DNA variants in the MUTYH gene

This paper reviews the phenotypic spectrum of MUTYH-associated polyposis (MAP) to clarify associations between pathogenic MUTYH variants and various cancers and extracolonic manifestations.

Mismatch repair gene specifications to the ACMG/AMP classification criteria: Consensus recommendations from the InSiGHT ClinGen Hereditary Colorectal Cancer / Polyposis Variant Curation Expert Panel

The paper specifies MMR gene-specific criteria to the ACMG/AMP classification system, reclassifying some variants and providing a framework for improved pathogenicity assessment.

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

Evidence-based calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for clinical use of PP3/BP4 criteria

The paper calibrates computational tools for missense variant pathogenicity classification and provides evidence-based revisions to PP3/BP4 ACMG/AMP criteria.

Curated Multiple Sequence Alignment for the Adenomatous Polyposis Coli (APC) Gene and Accuracy of In Silico Pathogenicity Predictions

The paper evaluates how PMSA-based computational tools predict pathogenicity of APC missense variants, finding wide variation in predictions and highlighting challenges in alignment-based methods.

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

The paper provides structured recommendations for applying the PS3/BS3 functional evidence criteria in variant interpretation using the ACMG/AMP framework, including a four-step framework and minimum control requirements.