Regeneron Genetics Center

No ORCID on file · 5 papers in corpus · active 2024-2025

Study types

  • other 3
  • article 1
  • preprint 1

Condition tags

  • endometriosis 5
  • adenomyosis 2
article 2025
DRIVE-KG: Enhancing variant-phenotype association discovery in understudied complex diseases using heterogeneous knowledge graphs
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing ·doi:10.1142/9789819824755_0060

Multi-omics data are instrumental in obtaining a comprehensive picture of complex biological systems. This is particularly useful for women's health conditions such as endometriosis, which has been historically understudied despite having a…

other 2025
DRIVE-KG: Enhancing variant-phenotype association discovery in understudied complex diseases using heterogeneous knowledge graphs
medRxiv : the preprint server for health sciences ·doi:10.1101/2025.08.19.25333942

Multi-omics data are instrumental in obtaining a comprehensive picture of complex biological systems. This is particularly useful for women's health conditions, such as endometriosis which has been historically understudied despite having a…

other 2025
Expanding the genetic landscape of endometriosis: Integrative -omics analyses implicate key genes and pathways in a multi-ancestry study of over one million women
Research square ·doi:10.21203/rs.3.rs-8116602/v1

We report the findings of a genome-wide association study (GWAS) meta-analysis of endometriosis across 14 biobanks worldwide, including 32% non-European patient participants, as part of the Global Biobank Meta-Analysis Initiative (GBMI). Ou…

other 2024
Enhancing genetic association power in endometriosis through unsupervised clustering of clinical subtypes identified from electronic health records
Research square ·doi:10.21203/rs.3.rs-5004325/v1

Endometriosis is a complex and heterogeneous condition affecting 10% of reproductive-age women, and yet, it often goes undiagnosed for several years. Limited observed heritability (7%) of large genetic association studies may be attributabl…

preprint 2024
Enhancing Genetic Association Power in Endometriosis through Unsupervised Clustering of Clinical Subtypes Identified from Electronic Health Records
medRxiv : the preprint server for health sciences ·doi:10.1101/2024.04.22.24306092

BACKGROUND: Endometriosis affects 10% of reproductive-age women, and yet, it goes undiagnosed for 3.6 years on average after symptoms onset. Despite large GWAS meta-analyses (N > 750,000), only a few dozen causal loci have been identified. …