NIH #5U01HG012022-05
Supporting IGVF by modeling genetics, function, and phenotype with machine learning
- Amount
- $622K
- Period
- 2021-09-01 → 2026-05-31
- PIs
- 1
- Est. capacity / PI
- ~0 students
Genomics and Rare Diseases · Genetics
20 total · 0 active
NIH #5U01HG012022-05
NIH #5U01HG012022-04
NIH #5U01HG012022-03
Student capacity is a rough estimate from remaining award size, split equally among PIs. Actual funding decisions vary.
Direct collaborators. Node size = influence, colour = community, dashed = past collaboration.
Saturation Genome Editing reveals the functional impact of RAD51D <i>and</i> XRCC2 variants
bioRxiv (Cold Spring Harbor Laboratory) · 2026-06-13
Improving splice site usage prediction with SPLAIRE
bioRxiv (Cold Spring Harbor Laboratory) · 2026-06-11
Gene- and domain-aware calibration increases the clinical utility of variant effect predictorsPreprint
Research Square · 2026-05-08
Zenodo (CERN European Organization for Nuclear Research) · 2026-05-01
Zenodo (CERN European Organization for Nuclear Research) · 2026-05-01
Calibration of in-frame indel variant effect predictors for clinical variant classification
bioRxiv (Cold Spring Harbor Laboratory) · 2026-04-18
Microbiology Spectrum · 2026-03-25 · 2 citations
Gene- and domain-aware calibration increases the clinical utility of variant effect predictors
bioRxiv (Cold Spring Harbor Laboratory) · 2026-02-18
Ancestry-specific performance of variant effect predictors in clinical variant classification
bioRxiv (Cold Spring Harbor Laboratory) · 2026-02-17
A scalable approach to resolving variants of uncertain significance
bioRxiv (Cold Spring Harbor Laboratory) · 2026-02-15 · 3 citations
Improving variant classification through data aggregation and calibration
Pathology · 2026-02-01
An integrated, scaled approach to resolve TSC2 variants of uncertain significance
bioRxiv (Cold Spring Harbor Laboratory) · 2026-01-18 · 1 citations
O61: Improving variant classification for genomic medicine through evidence calibration
Genetics in Medicine Open · 2026-01-01
bioRxiv (Cold Spring Harbor Laboratory) · 2025-12-23
LLMs for Causal Reasoning in Medicine? A Call for Caution
2025-12-17
The IGVF catalog—from genetic variation to function
Nucleic Acids Research · 2025-12-08 · 3 citations
2025-12-01
2025-12-01
2025-08-01 · 1 citations
Gene-based calibration of high-throughput functional assays for clinical variant classificationPreprint
bioRxiv (Cold Spring Harbor Laboratory) · 2025-05-04 · 6 citations