Synapse
⌘+K
Synapse
PulseExploreClubsResearchersJournals
Instagram
HomeClubsExplore
December 8, 2025BloodOpen Access

Germline variant database and visualization platform for BMF and hematologic malignancy predisposition syndromes: BMFgenes1.0

View Full Paper
Ask AI
Bookmark
Share

Authors

AWAndrew WillemsKGKarishma GangwaniEAEnrico Attardi

Discussion

Loading...

Member takes

Overview

Interactive platform analyzes germline variants in bone marrow failure and hematologic malignancies, indicating potential treatment protocols.

Key Points

  • To create a platform for rapid interrogation of germline variants associated with bone marrow failure and hematologic malignancies.
  • Curated variants from 464 publications
  • Developed an interactive platform for data visualization
  • Supported community data submission and curation
  • Initial release includes 1,931 cases across 7 genes
  • GATA2 deficiency showed high disease penetrance at 93%
  • Monosomy 7 identified in major karyotype abnormalities

Cite This Study

Willems et al. (2025) studied this question.

synapsesocial.com/papers/69362f444fa91c937236d597https://doi.org/10.1182/blood-2025-3222
View Full Paper
Ask AI
Bookmark
Share