Shannon M. McNulty

This study evaluates a nanopore sequencing workflow for detecting complex variants in hereditary disease genes across multiple labs, finding high agreement with standard methods.

The paper develops SCID-specific variant classification guidelines by adapting ACMG/AMP criteria for seven SCID-related genes using expert review and a pilot variant set.

The paper curates 31 genes associated with limb girdle muscular dystrophy (LGMD) using an expert panel and clinical validity framework, identifying 35 gene-disease relationships with varying levels of evidence.

The paper specifies gene-specific rules for interpreting ATM variants using ACMG/AMP guidelines, improving classification accuracy in a pilot study.

MACE2K extracts variant-disease association evidence from biomedical literature using machine learning models, achieving high recall and precision in identifying relevant sentences.

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.

The paper evaluates how ClinGen Variant Curation Expert Panels (VCEPs) use functional assay evidence in variant classification, finding variability in assay selection and validation parameters.