rewirebio.iobenchmarks
Protocol

Zero-shot BRCA1 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)

Zero-shot classification of loss-of-function (LOF) versus functional or intermediate (FUNC, INT) variants in the BRCA1 'Both' (coding and noncoding) SNVs stratum, AUROC and AUPRC.

15 evaluations · 30 results

Overview

An explanatory profile has not yet been reviewed for this record.

Consult the linked sources for architecture or protocol details. Missing evidence is not evidence of a missing capability.

15 recorded evaluations, 30 metric rows. A comparison chart has not yet been validated for these results. The table retains the individual findings and their sources.

View coverage and remaining gaps across all benchmarks

Results

Results are available, but no reviewed comparison panel is linked in this release.

All evaluations

15 evaluations · 30 results. Different protocols are not a single leaderboard.

Protocol: Zero-shot BRCA1 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1) · Dataset: BRCA1 saturation genome editing SNVs, Findlay et al. 2018 classes (Brixi et al. 2026)

Sorted by AUPRC (zero-shot; BRCA1 'Both' (coding and noncoding) SNVs) (higher is better). The best value in each column is highlighted. Decimals are rounded for display; each value links to the printed value and its source.

All 30 result rows with coverage, uncertainty and sources
Filter evaluations

Applied filters: All linked evaluations

Exact evaluated configurations and original reported results
Tested configurationProtocol and datasetFindingEvidence and details
Configuration: CADD (Evo 2 paper variant effect evaluations)Protocol: Zero-shot BRCA1 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: BRCA1 saturation genome editing SNVs, Findlay et al. 2018 classes (Brixi et al. 2026)
0.73 AUPRC (zero-shot; BRCA1 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

CADD on BRCA1 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-brca1-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell J608, row 608: Model 'CADD', Data 'BRCA1', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUPRC'
Configuration: CADD (Evo 2 paper variant effect evaluations)Protocol: Zero-shot BRCA1 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: BRCA1 saturation genome editing SNVs, Findlay et al. 2018 classes (Brixi et al. 2026)
0.876 AUROC (zero-shot; BRCA1 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

CADD on BRCA1 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-brca1-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell I608, row 608: Model 'CADD', Data 'BRCA1', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUROC'
Configuration: Evo 1 (Evo 2 paper variant effect evaluations)Protocol: Zero-shot BRCA1 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: BRCA1 saturation genome editing SNVs, Findlay et al. 2018 classes (Brixi et al. 2026)
0.216 AUPRC (zero-shot; BRCA1 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

Evo 1 on BRCA1 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-brca1-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell J611, row 611: Model 'Evo 1', Data 'BRCA1', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUPRC'
Configuration: Evo 1 (Evo 2 paper variant effect evaluations)Protocol: Zero-shot BRCA1 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: BRCA1 saturation genome editing SNVs, Findlay et al. 2018 classes (Brixi et al. 2026)
0.497 AUROC (zero-shot; BRCA1 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

Evo 1 on BRCA1 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-brca1-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell I611, row 611: Model 'Evo 1', Data 'BRCA1', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUROC'
Configuration: Evo 2 40B base (Evo 2 paper variant effect evaluations)Protocol: Zero-shot BRCA1 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: BRCA1 saturation genome editing SNVs, Findlay et al. 2018 classes (Brixi et al. 2026)
0.673 AUPRC (zero-shot; BRCA1 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

Evo 2 40B base on BRCA1 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-brca1-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell J617, row 617: Model 'Evo 2 40B base', Data 'BRCA1', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUPRC'
Configuration: Evo 2 40B base (Evo 2 paper variant effect evaluations)Protocol: Zero-shot BRCA1 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: BRCA1 saturation genome editing SNVs, Findlay et al. 2018 classes (Brixi et al. 2026)
0.897 AUROC (zero-shot; BRCA1 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

Evo 2 40B base on BRCA1 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-brca1-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell I617, row 617: Model 'Evo 2 40B base', Data 'BRCA1', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUROC'
Configuration: Evo 2 40B (Evo 2 paper variant effect evaluations)Protocol: Zero-shot BRCA1 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: BRCA1 saturation genome editing SNVs, Findlay et al. 2018 classes (Brixi et al. 2026)
0.677 AUPRC (zero-shot; BRCA1 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

Evo 2 40B on BRCA1 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-brca1-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell J614, row 614: Model 'Evo 2 40B', Data 'BRCA1', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUPRC'
Configuration: Evo 2 40B (Evo 2 paper variant effect evaluations)Protocol: Zero-shot BRCA1 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: BRCA1 saturation genome editing SNVs, Findlay et al. 2018 classes (Brixi et al. 2026)
0.901 AUROC (zero-shot; BRCA1 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

Evo 2 40B on BRCA1 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-brca1-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell I614, row 614: Model 'Evo 2 40B', Data 'BRCA1', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUROC'
Configuration: Evo 2 7B base (Evo 2 paper variant effect evaluations)Protocol: Zero-shot BRCA1 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: BRCA1 saturation genome editing SNVs, Findlay et al. 2018 classes (Brixi et al. 2026)
0.713 AUPRC (zero-shot; BRCA1 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

Evo 2 7B base on BRCA1 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-brca1-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell J623, row 623: Model 'Evo 2 7B base', Data 'BRCA1', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUPRC'
Configuration: Evo 2 7B base (Evo 2 paper variant effect evaluations)Protocol: Zero-shot BRCA1 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: BRCA1 saturation genome editing SNVs, Findlay et al. 2018 classes (Brixi et al. 2026)
0.891 AUROC (zero-shot; BRCA1 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

Evo 2 7B base on BRCA1 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-brca1-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell I623, row 623: Model 'Evo 2 7B base', Data 'BRCA1', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUROC'
Configuration: Evo 2 7B (Evo 2 paper variant effect evaluations)Protocol: Zero-shot BRCA1 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: BRCA1 saturation genome editing SNVs, Findlay et al. 2018 classes (Brixi et al. 2026)
0.733 AUPRC (zero-shot; BRCA1 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

Evo 2 7B on BRCA1 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-brca1-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell J620, row 620: Model 'Evo 2 7B', Data 'BRCA1', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUPRC'
Configuration: Evo 2 7B (Evo 2 paper variant effect evaluations)Protocol: Zero-shot BRCA1 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: BRCA1 saturation genome editing SNVs, Findlay et al. 2018 classes (Brixi et al. 2026)
0.904 AUROC (zero-shot; BRCA1 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

Evo 2 7B on BRCA1 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-brca1-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell I620, row 620: Model 'Evo 2 7B', Data 'BRCA1', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUROC'
Configuration: GPN-MSA (Evo 2 paper variant effect evaluations)Protocol: Zero-shot BRCA1 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: BRCA1 saturation genome editing SNVs, Findlay et al. 2018 classes (Brixi et al. 2026)
0.65 AUPRC (zero-shot; BRCA1 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

GPN-MSA on BRCA1 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-brca1-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell J626, row 626: Model 'GPN-MSA', Data 'BRCA1', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUPRC'
Configuration: GPN-MSA (Evo 2 paper variant effect evaluations)Protocol: Zero-shot BRCA1 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: BRCA1 saturation genome editing SNVs, Findlay et al. 2018 classes (Brixi et al. 2026)
0.863 AUROC (zero-shot; BRCA1 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

GPN-MSA on BRCA1 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-brca1-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell I626, row 626: Model 'GPN-MSA', Data 'BRCA1', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUROC'
Configuration: NT (Evo 2 paper variant effect evaluations)Protocol: Zero-shot BRCA1 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: BRCA1 saturation genome editing SNVs, Findlay et al. 2018 classes (Brixi et al. 2026)
0.285 AUPRC (zero-shot; BRCA1 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

NT on BRCA1 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-brca1-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell J629, row 629: Model 'NT', Data 'BRCA1', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUPRC'
Configuration: NT (Evo 2 paper variant effect evaluations)Protocol: Zero-shot BRCA1 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: BRCA1 saturation genome editing SNVs, Findlay et al. 2018 classes (Brixi et al. 2026)
0.55 AUROC (zero-shot; BRCA1 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

NT on BRCA1 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-brca1-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell I629, row 629: Model 'NT', Data 'BRCA1', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUROC'
Configuration: Pangolin (Evo 2 paper variant effect evaluations)Protocol: Zero-shot BRCA1 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: BRCA1 saturation genome editing SNVs, Findlay et al. 2018 classes (Brixi et al. 2026)
0.29 AUPRC (zero-shot; BRCA1 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

Pangolin on BRCA1 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-brca1-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell J632, row 632: Model 'Pangolin', Data 'BRCA1', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUPRC'
Configuration: Pangolin (Evo 2 paper variant effect evaluations)Protocol: Zero-shot BRCA1 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: BRCA1 saturation genome editing SNVs, Findlay et al. 2018 classes (Brixi et al. 2026)
0.592 AUROC (zero-shot; BRCA1 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

Pangolin on BRCA1 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-brca1-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell I632, row 632: Model 'Pangolin', Data 'BRCA1', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUROC'
Configuration: PhyloP 100 (Evo 2 paper variant effect evaluations)Protocol: Zero-shot BRCA1 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: BRCA1 saturation genome editing SNVs, Findlay et al. 2018 classes (Brixi et al. 2026)
0.495 AUPRC (zero-shot; BRCA1 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

PhyloP 100 on BRCA1 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-brca1-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell J635, row 635: Model 'PhyloP 100', Data 'BRCA1', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUPRC'
Configuration: PhyloP 100 (Evo 2 paper variant effect evaluations)Protocol: Zero-shot BRCA1 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: BRCA1 saturation genome editing SNVs, Findlay et al. 2018 classes (Brixi et al. 2026)
0.811 AUROC (zero-shot; BRCA1 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

PhyloP 100 on BRCA1 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-brca1-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell I635, row 635: Model 'PhyloP 100', Data 'BRCA1', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUROC'
Configuration: PhyloP 241 (Evo 2 paper variant effect evaluations)Protocol: Zero-shot BRCA1 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: BRCA1 saturation genome editing SNVs, Findlay et al. 2018 classes (Brixi et al. 2026)
0.532 AUPRC (zero-shot; BRCA1 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

PhyloP 241 on BRCA1 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-brca1-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell J638, row 638: Model 'PhyloP 241', Data 'BRCA1', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUPRC'
Configuration: PhyloP 241 (Evo 2 paper variant effect evaluations)Protocol: Zero-shot BRCA1 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: BRCA1 saturation genome editing SNVs, Findlay et al. 2018 classes (Brixi et al. 2026)
0.811 AUROC (zero-shot; BRCA1 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

PhyloP 241 on BRCA1 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-brca1-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell I638, row 638: Model 'PhyloP 241', Data 'BRCA1', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUROC'
Configuration: PhyloP 447 (Evo 2 paper variant effect evaluations)Protocol: Zero-shot BRCA1 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: BRCA1 saturation genome editing SNVs, Findlay et al. 2018 classes (Brixi et al. 2026)
0.54 AUPRC (zero-shot; BRCA1 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

PhyloP 447 on BRCA1 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-brca1-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell J641, row 641: Model 'PhyloP 447', Data 'BRCA1', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUPRC'
Configuration: PhyloP 447 (Evo 2 paper variant effect evaluations)Protocol: Zero-shot BRCA1 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: BRCA1 saturation genome editing SNVs, Findlay et al. 2018 classes (Brixi et al. 2026)
0.821 AUROC (zero-shot; BRCA1 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

PhyloP 447 on BRCA1 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-brca1-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell I641, row 641: Model 'PhyloP 447', Data 'BRCA1', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUROC'
Configuration: PhyloP 470 (Evo 2 paper variant effect evaluations)Protocol: Zero-shot BRCA1 'Both' (coding and noncoding) SNVs classification (Evo 2 paper, Supplementary Data 1)
Dataset: BRCA1 saturation genome editing SNVs, Findlay et al. 2018 classes (Brixi et al. 2026)
0.481 AUPRC (zero-shot; BRCA1 'Both' (coding and noncoding) SNVs)
unitless · higher

Uncertainty: Not reported by the source

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PhyloP 470 on BRCA1 'Both' (coding and noncoding) SNVs (Evo 2 paper)

gfm-guides-20261014-evo2-brixi2026-protocol-brca1-both-snv

Aggregation: Not reported

Genome modelling and design across all domains of life with Evo 2: Supplementary Data 1, human variant effect prediction results (Nature 2026); Genome modelling and design across all domains of life with Evo 2: Supplementary Information (Nature 2026) · Supplementary Data 1 (sheet 'Sheet1') cell J644, row 644: Model 'PhyloP 470', Data 'BRCA1', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category '', column 'AUPRC'

Source checking is not independent reproduction. Release 2026-10-22-1b7cf027e4f6.

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Stable ID: gfm-guides-20261014-evo2-brixi2026-protocol-brca1-both-snv

areas
dna-genomes
contexts
research
protocol
Score each variant zero-shot (for Evo 2, the log-likelihood of the variant sequence minus that of the reference over an 8,192-bp genomic window around the variant) and compute AUROC and AUPRC for loss-of-function (LOF) versus functional or intermediate (FUNC, INT) variants in the stratum Data 'BRCA1', Genomic_Feature 'Both', Variant_Type 'SNV'.
version
As published, Nature 652 (2026), Supplementary Data 1
source locator
Supplementary Data 1 rows with Data 'BRCA1', Genomic_Feature 'Both', Variant_Type 'SNV', Sub_category ''; SI A.3.12 and A.3.15 (pages 13 and 14); Extended Data Fig. 5a
limitations
Positives: 823 loss-of-function (LOF); negatives: 3070 functional or intermediate (FUNC, INT); total 3893 variants (Supplementary Data 1).; No split: every model scores the same variants zero-shot (SI A.3.12: 'For each benchmark, we score the same variants with all models').; Supervised comparators (AlphaMissense, CADD, SpliceAI, Pangolin) may have been trained on overlapping variants; training overlap is not reported.; No uncertainty is reported.
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