Reposted by ankit
Can MAVEs and population-free VEPs be combined to improve variant classification? VEPs detect a broad range of pathogenic variants, while MAVEs give more conservative & decisive calls. Combined, they equitably reclassify >90% of VUS. Read more in our study on combining evidence from MAVEs and VEPs:
Combining MAVEs and computational predictors improves variant classification across ancestries in hereditary cancer genes https://www.medrxiv.org/content/10.64898/2025.12.08.25341119v1
December 9, 2025 at 6:41 PM
Can MAVEs and population-free VEPs be combined to improve variant classification? VEPs detect a broad range of pathogenic variants, while MAVEs give more conservative & decisive calls. Combined, they equitably reclassify >90% of VUS. Read more in our study on combining evidence from MAVEs and VEPs:
Reposted by ankit
We’ve updated the acmgscaler manuscript following reviewer and community feedback.
The R package now has a single calibrate() function, and the Colab interface is easier to use.
📄 Manuscript: www.biorxiv.org/content/10.1...
🧪 Colab: edin.ac/4mjzijp
#rstats @theacmg.bsky.social
The R package now has a single calibrate() function, and the Colab interface is easier to use.
📄 Manuscript: www.biorxiv.org/content/10.1...
🧪 Colab: edin.ac/4mjzijp
#rstats @theacmg.bsky.social
acmgscaler: An R package and Colab for standardised gene-level variant effect score calibration within the ACMG/AMP framework
A genome-wide variant effect calibration method was recently developed under the guidelines of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/A...
www.biorxiv.org
August 15, 2025 at 8:35 AM
We’ve updated the acmgscaler manuscript following reviewer and community feedback.
The R package now has a single calibrate() function, and the Colab interface is easier to use.
📄 Manuscript: www.biorxiv.org/content/10.1...
🧪 Colab: edin.ac/4mjzijp
#rstats @theacmg.bsky.social
The R package now has a single calibrate() function, and the Colab interface is easier to use.
📄 Manuscript: www.biorxiv.org/content/10.1...
🧪 Colab: edin.ac/4mjzijp
#rstats @theacmg.bsky.social
