Birgit Funke

This paper estimates the penetrance of rare variants in cardiomyopathy genes using cross-sectional data from genetic testing, finding substantial penetrance for dominant cardiomyopathies and variant-specific differences.

The paper curates a list of clinically important variants for use in clinical genomic test development and validation.

Neptune delivers structured genomic data to EHR systems through customizable reports and variant reanalysis, supporting over 15,000 clinical reports.

This study identifies genetic overlaps and distinct variant classes in LVNC compared to DCM and HCM, revealing both shared and unique genetic mechanisms.

The paper proposes a framework for classifying and reporting low-penetrance variants associated with disease risk, emphasizing data elements and criteria for clinical inclusion.

The paper develops standardized tools and best practices for benchmarking germline small variant calls in human genomes using truth sets and performance metrics.

The paper responds to a critique of their variant filtering method, demonstrating its robustness and highlighting the benefits of using high-resolution variant frequencies for clinical genome interpretation.

The paper presents a statistical framework to filter candidate disease-causing variants using high-resolution variant frequencies, reducing the number of variants under consideration and reclassifying some as pathogenic.