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  1. CITATION.cff +35 -0
  2. LICENSE.md +22 -0
  3. NOTICE.md +49 -0
  4. README.md +186 -0
  5. SHA256SUMS +80 -0
  6. UPLOAD_READY.json +11 -0
  7. USAGE.md +117 -0
  8. data/spliceai-mane-v1.5-d500-m1.snv.chr10.vcf.gz.tbi +0 -0
  9. data/spliceai-mane-v1.5-d500-m1.snv.chr11.vcf.gz.tbi +0 -0
  10. data/spliceai-mane-v1.5-d500-m1.snv.chr12.vcf.gz.tbi +0 -0
  11. data/spliceai-mane-v1.5-d500-m1.snv.chr13.vcf.gz.tbi +0 -0
  12. data/spliceai-mane-v1.5-d500-m1.snv.chr14.vcf.gz.tbi +0 -0
  13. data/spliceai-mane-v1.5-d500-m1.snv.chr15.vcf.gz.tbi +0 -0
  14. data/spliceai-mane-v1.5-d500-m1.snv.chr16.vcf.gz.tbi +0 -0
  15. data/spliceai-mane-v1.5-d500-m1.snv.chr17.vcf.gz.tbi +0 -0
  16. data/spliceai-mane-v1.5-d500-m1.snv.chr18.vcf.gz.tbi +0 -0
  17. data/spliceai-mane-v1.5-d500-m1.snv.chr19.vcf.gz.tbi +0 -0
  18. data/spliceai-mane-v1.5-d500-m1.snv.chr20.vcf.gz.tbi +0 -0
  19. data/spliceai-mane-v1.5-d500-m1.snv.chr21.vcf.gz.tbi +0 -0
  20. data/spliceai-mane-v1.5-d500-m1.snv.chr22.vcf.gz.tbi +0 -0
  21. data/spliceai-mane-v1.5-d500-m1.snv.chr3.vcf.gz.tbi +0 -0
  22. data/spliceai-mane-v1.5-d500-m1.snv.chr4.vcf.gz.tbi +0 -0
  23. data/spliceai-mane-v1.5-d500-m1.snv.chr5.vcf.gz.tbi +0 -0
  24. data/spliceai-mane-v1.5-d500-m1.snv.chr6.vcf.gz.tbi +0 -0
  25. data/spliceai-mane-v1.5-d500-m1.snv.chr7.vcf.gz.tbi +0 -0
  26. data/spliceai-mane-v1.5-d500-m1.snv.chr8.vcf.gz.tbi +0 -0
  27. data/spliceai-mane-v1.5-d500-m1.snv.chr9.vcf.gz.tbi +0 -0
  28. data/spliceai-mane-v1.5-d500-m1.snv.chrX.vcf.gz.tbi +0 -0
  29. data/spliceai-mane-v1.5-d500-m1.snv.chrY.vcf.gz.tbi +0 -0
  30. metadata/broad-validation-summary.json +47 -0
  31. metadata/chromosomes/chr1.json +16 -0
  32. metadata/chromosomes/chr10.json +16 -0
  33. metadata/chromosomes/chr11.json +16 -0
  34. metadata/chromosomes/chr12.json +16 -0
  35. metadata/chromosomes/chr13.json +16 -0
  36. metadata/chromosomes/chr14.json +16 -0
  37. metadata/chromosomes/chr15.json +16 -0
  38. metadata/chromosomes/chr16.json +16 -0
  39. metadata/chromosomes/chr17.json +16 -0
  40. metadata/chromosomes/chr18.json +16 -0
  41. metadata/chromosomes/chr19.json +16 -0
  42. metadata/chromosomes/chr2.json +16 -0
  43. metadata/chromosomes/chr20.json +16 -0
  44. metadata/chromosomes/chr21.json +16 -0
  45. metadata/chromosomes/chr22.json +16 -0
  46. metadata/chromosomes/chr3.json +16 -0
  47. metadata/chromosomes/chr4.json +16 -0
  48. metadata/chromosomes/chr5.json +16 -0
  49. metadata/chromosomes/chr6.json +16 -0
  50. metadata/release-manifest.json +366 -0
CITATION.cff ADDED
@@ -0,0 +1,35 @@
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
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+ cff-version: 1.2.0
2
+ title: "SpliceAI MANE Select v1.5 GRCh38 SNV scores (D=500, masked)"
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+ message: "Please cite this dataset, the generation software, the original SpliceAI publication, and MANE."
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+ type: dataset
5
+ authors:
6
+ - family-names: Luo
7
+ given-names: Yiming
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+ version: 1.0.0
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+ date-released: 2026-10-03
10
+ license: CC-BY-NC-4.0
11
+ repository-code: "https://github.com/yimingluo-md/batched-inference-for-spliceai"
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+ references:
13
+ - type: software
14
+ title: "Batched inference for SpliceAI"
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+ authors:
16
+ - family-names: Luo
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+ given-names: Yiming
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+ version: 0.1.0rc4
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+ repository-code: "https://github.com/yimingluo-md/batched-inference-for-spliceai"
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+ - type: article
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+ title: "Predicting Splicing from Primary Sequence with Deep Learning"
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+ authors:
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+ - family-names: Jaganathan
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+ given-names: Kishore
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+ year: 2019
26
+ journal: Cell
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+ doi: 10.1016/j.cell.2018.12.015
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+ - type: article
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+ title: "A joint NCBI and EMBL-EBI transcript set for clinical genomics and research"
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+ authors:
31
+ - family-names: Morales
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+ given-names: Joannella
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+ year: 2022
34
+ journal: Nature
35
+ doi: 10.1038/s41586-022-04558-8
LICENSE.md ADDED
@@ -0,0 +1,22 @@
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
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+ # Creative Commons Attribution-NonCommercial 4.0 International
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+
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+ This dataset is licensed under the Creative Commons Attribution-NonCommercial
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+ 4.0 International license (CC BY-NC 4.0).
5
+
6
+ You are free to share and adapt the material under the following terms:
7
+
8
+ - **Attribution:** Give appropriate credit, provide a link to the license, and
9
+ indicate whether changes were made. Do not imply endorsement.
10
+ - **NonCommercial:** You may not use the material for commercial purposes.
11
+ - **No additional restrictions:** You may not apply legal or technological
12
+ measures that legally restrict others from doing anything the license permits.
13
+
14
+ The complete, controlling legal code is available at:
15
+
16
+ <https://creativecommons.org/licenses/by-nc/4.0/legalcode>
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+
18
+ The license applies to the dataset and generated score files to the extent they
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+ are licensable by the dataset publisher. SpliceAI, its trained models, MANE,
20
+ GRCh38, third-party software, names, and trademarks retain their respective
21
+ rights and terms. No rights beyond those held by the dataset publisher are
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+ granted.
NOTICE.md ADDED
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+ # Notices and attribution
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+
3
+ ## SpliceAI
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+
5
+ The scores were produced using SpliceAI 1.3.1 and its five-model ensemble.
6
+ SpliceAI was developed by Illumina, Inc. This dataset is independent and is not
7
+ affiliated with or endorsed by Illumina. The SpliceAI name is used only to
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+ identify compatibility with the upstream method and score format.
9
+
10
+ Please cite:
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+
12
+ Jaganathan K, et al. Predicting Splicing from Primary Sequence with Deep
13
+ Learning. *Cell*. 2019;176(3):535–548.e24.
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+ <https://doi.org/10.1016/j.cell.2018.12.015>
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+
16
+ ## MANE
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+
18
+ Transcript definitions are derived from MANE Select v1.5. The source MANE
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+ annotation itself is not redistributed in this dataset.
20
+
21
+ Please cite:
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+
23
+ Morales J, et al. A joint NCBI and EMBL-EBI transcript set for clinical
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+ genomics and research. *Nature*. 2022;604:310–315.
25
+ <https://doi.org/10.1038/s41586-022-04558-8>
26
+
27
+ ## Reference genome
28
+
29
+ Scores use GRCh38/hg38 coordinates. Reference genome sequence is not included.
30
+
31
+ ## Generation software
32
+
33
+ The generation software is available separately under GPL-3.0-or-later:
34
+
35
+ <https://github.com/yimingluo-md/batched-inference-for-spliceai>
36
+
37
+ The dataset license does not alter the software license, and the software
38
+ license does not replace the dataset license.
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+
40
+ ## External validation
41
+
42
+ The Broad SpliceAI Lookup service was used as an external scientific
43
+ comparator. Raw API responses are not included. Broad Institute does not
44
+ endorse this dataset.
45
+
46
+ ## Research-use notice
47
+
48
+ This dataset is not a validated clinical diagnostic device. Predictions require
49
+ independent review and must not be the sole basis for patient-care decisions.
README.md CHANGED
@@ -1,3 +1,189 @@
1
  ---
 
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  license: cc-by-nc-4.0
 
 
 
 
 
 
 
 
 
 
 
 
 
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  ---
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
1
  ---
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+ pretty_name: "SpliceAI MANE Select v1.5 GRCh38 SNV scores (D=500, masked)"
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  license: cc-by-nc-4.0
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+ language:
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+ - en
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+ tags:
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+ - biology
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+ - genomics
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+ - bioinformatics
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+ - variants
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+ - vcf
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+ - spliceai
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+ - grch38
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+ - mane-select
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+ size_categories:
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+ - 1B<n<10B
17
  ---
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+
19
+ # SpliceAI MANE Select v1.5 GRCh38 SNV scores
20
+
21
+ Masked SpliceAI 1.3.1 scores for all three possible non-reference single-
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+ nucleotide variants at every A/C/G/T position within the union of MANE Select
23
+ v1.5 transcript spans on the 24 GRCh38 primary chromosomes.
24
+
25
+ The predictions were computed with a maximum distance of 500 nucleotides
26
+ (`D=500`) and masking enabled (`M=1`). The release contains **3,408,398,835
27
+ SNV records** in 24 bgzip-compressed, tabix-indexed VCF files. The compressed
28
+ VCFs total 34.32 GB (31.96 GiB).
29
+
30
+ This is an independent research dataset. It is not affiliated with or endorsed
31
+ by Illumina. “SpliceAI” is used descriptively to identify compatibility with
32
+ the SpliceAI score format.
33
+
34
+ ## Why this dataset was generated
35
+
36
+ The original GRCh38 precomputed SpliceAI scores used an older transcript set
37
+ and genome-build liftover. Martin-Geary et al. reported transcript-selection
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+ and liftover-related discrepancies in that resource
39
+ ([doi:10.1101/2025.08.27.25334471](https://doi.org/10.1101/2025.08.27.25334471)).
40
+ The Broad SpliceAI Lookup service provides updated calculations but is designed
41
+ for small, rate-limited queries rather than genome-wide annotation. Ensembl
42
+ provides MANE-based SNV scores with a smaller reported distance. This dataset
43
+ provides a bulk, reproducible MANE Select v1.5 resource with `D=500` and
44
+ `M=1`. A wider search distance permits SpliceAI to report predicted splice-site
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+ changes farther from the queried variant; see Pitsava et al.
46
+ ([doi:10.1016/j.gim.2025.101574](https://doi.org/10.1016/j.gim.2025.101574)).
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+
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+ ## Dataset contents
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+
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+ ```text
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+ data/
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+ spliceai-mane-v1.5-d500-m1.snv.chr1.vcf.gz
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+ spliceai-mane-v1.5-d500-m1.snv.chr1.vcf.gz.tbi
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+ ...
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+ spliceai-mane-v1.5-d500-m1.snv.chrY.vcf.gz
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+ spliceai-mane-v1.5-d500-m1.snv.chrY.vcf.gz.tbi
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+ metadata/
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+ release-manifest.json
59
+ broad-validation-summary.json
60
+ README.md
61
+ USAGE.md
62
+ LICENSE.md
63
+ NOTICE.md
64
+ CITATION.cff
65
+ SHA256SUMS
66
+ ```
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+
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+ Each VCF record has one alternate allele and a `SpliceAI` INFO value:
69
+
70
+ ```text
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+ ALLELE|SYMBOL|DS_AG|DS_AL|DS_DG|DS_DL|DP_AG|DP_AL|DP_DG|DP_DL
72
+ ```
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+
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+ `DS` fields are delta scores for acceptor gain, acceptor loss, donor gain, and
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+ donor loss. `DP` fields are the corresponding signed positions relative to the
76
+ variant. Scores are stored to two decimal places. A delta position associated
77
+ with a displayed score of `0.00` should not be interpreted as evidence of an
78
+ effect.
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+
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+ No score threshold was applied. Users can select thresholds appropriate to
81
+ their intended research application.
82
+
83
+ ## Genome and transcript scope
84
+
85
+ - Genome assembly: GRCh38/hg38
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+ - Contigs: `1`–`22`, `X`, and `Y`
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+ - Transcript set: MANE Select v1.5
88
+ - Primary-assembly MANE Select transcripts: 19,299
89
+ - Variant class: SNVs only
90
+ - Search distance: 500 nucleotides
91
+ - Masking: enabled (`M=1`)
92
+ - SpliceAI version: 1.3.1, five-model ensemble
93
+
94
+ The release excludes 64 MANE Select v1.5 transcripts located only on GRCh38
95
+ patch or alternate sequences. It does not contain MANE Plus Clinical-only
96
+ transcripts, indels, mitochondrial variants, alternate loci, or patches.
97
+
98
+ ## Validation
99
+
100
+ The completed production release was audited across all 3,419 source shards:
101
+
102
+ - expected and observed records: 3,408,398,835;
103
+ - missing SpliceAI annotations: 0;
104
+ - all 24 primary chromosomes present;
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+ - all chromosome VCFs passed BGZF, tabix, count, and checksum checks;
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+ - deterministic production validation against the official SpliceAI 1.3.1
107
+ implementation passed;
108
+ - 120 chromosome-balanced production SNVs were compared with the Broad
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+ SpliceAI Lookup API at GRCh38, `D=500`, and `M=1`;
110
+ - comparisons performed: 120/120;
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+ - matching MANE Select responses: 120/120;
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+ - delta-position differences: 0;
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+ - maximum absolute score difference: 0.005.
114
+
115
+ The Broad service reports three decimal places while this VCF stores two, so a
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+ maximum difference of 0.005 is consistent with two-decimal quantization.
117
+
118
+ Checksums and the machine-readable release manifest are included. The public
119
+ VCF headers and manifests contain no execution-host paths.
120
+
121
+ ## Usage
122
+
123
+ See [USAGE.md](USAGE.md) for download, checksum verification, tabix lookup,
124
+ VCF annotation, chromosome naming, and interpretation examples.
125
+
126
+ ## Limitations and responsible use
127
+
128
+ SpliceAI scores are computational predictions, not measurements of RNA
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+ splicing and not classifications of pathogenicity. They should be considered
130
+ with transcript relevance, phenotype, population frequency, other evidence,
131
+ and—when appropriate—RNA or other functional studies.
132
+
133
+ This dataset is research material, not a validated clinical diagnostic device.
134
+ It must not be the sole basis for diagnosis, treatment, or other patient-care
135
+ decisions. Users are responsible for validation appropriate to their setting
136
+ and for compliance with applicable professional, institutional, and regulatory
137
+ requirements.
138
+
139
+ Because this resource is limited to MANE Select transcripts, clinically
140
+ important effects on alternative transcripts may be absent. Masking suppresses
141
+ some predictions that coincide with annotated splice gains or unannotated
142
+ splice losses. GRCh38 coordinates must not be used directly with another
143
+ assembly.
144
+
145
+ ## License
146
+
147
+ The dataset is distributed under the
148
+ [Creative Commons Attribution-NonCommercial 4.0 International license](LICENSE.md)
149
+ (CC BY-NC 4.0). Commercial use is not permitted under this license.
150
+
151
+ The source software used to produce the data has separate GPL-3.0-or-later
152
+ terms. The SpliceAI trained models and upstream materials retain their own
153
+ terms and attribution. No model files, reference genome sequence, MANE source
154
+ annotation, patient data, or Broad API response cache is included here.
155
+
156
+ ## Citation
157
+
158
+ Please cite this dataset, the generation software, and the original SpliceAI
159
+ publication:
160
+
161
+ - Luo Y. *SpliceAI MANE Select v1.5 GRCh38 SNV scores (D=500, masked).* Dataset,
162
+ version 1.0.0, 2026.
163
+ - Luo Y. *Batched inference for SpliceAI.* Version 0.1.0rc4.
164
+ <https://github.com/yimingluo-md/batched-inference-for-spliceai>
165
+ - Jaganathan K, et al. Predicting Splicing from Primary Sequence with Deep
166
+ Learning. *Cell*. 2019;176(3):535–548.e24.
167
+ [doi:10.1016/j.cell.2018.12.015](https://doi.org/10.1016/j.cell.2018.12.015)
168
+ - Morales J, et al. A joint NCBI and EMBL-EBI transcript set for clinical
169
+ genomics and research. *Nature*. 2022;604:310–315.
170
+ [doi:10.1038/s41586-022-04558-8](https://doi.org/10.1038/s41586-022-04558-8)
171
+
172
+ ## Reproducibility
173
+
174
+ Generation software:
175
+ <https://github.com/yimingluo-md/batched-inference-for-spliceai>
176
+
177
+ Production source revision:
178
+ [`a145b3c6aeee8fe020033a8a6a0e71816772e73a`](https://github.com/yimingluo-md/batched-inference-for-spliceai/commit/a145b3c6aeee8fe020033a8a6a0e71816772e73a)
179
+
180
+ The public manifest records the reference, MANE annotation, runner, container,
181
+ and source-code SHA-256 identifiers used for production.
182
+
183
+ ## AI-assisted development disclosure
184
+
185
+ The generation software and release preparation were developed with assistance
186
+ from OpenAI Codex (GPT-5.6 Sol) and Anthropic Claude Code (Claude Opus 5).
187
+ AI-generated suggestions were reviewed and tested before inclusion. These tools
188
+ are not project authors, and their use does not imply endorsement by OpenAI or
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+ Anthropic.
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1
+ {
2
+ "status": "passed",
3
+ "dataset_version": "1.0.0",
4
+ "records": 3408398835,
5
+ "chromosomes": 24,
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+ "license": "CC-BY-NC-4.0",
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+ "metadata_sanitized": true,
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+ "records_byte_identical_to_audited_source": true,
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+ "release_manifest_sha256": "a994415f75ddd59fc37f31fd87697c1f5af45b7e12283a17bd2c1699909a0b27",
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+ "finalized_at": "2026-10-03T20:18:00.511235+00:00"
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+ }
USAGE.md ADDED
@@ -0,0 +1,117 @@
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
1
+ # Usage
2
+
3
+ ## Download
4
+
5
+ Install the Hugging Face command-line client and download the dataset:
6
+
7
+ ```bash
8
+ python -m pip install --upgrade "huggingface_hub[hf_xet]"
9
+ hf download luoyiming1991/spliceai-mane-v1.5-d500-m1-snv --repo-type dataset --local-dir spliceai-mane-v1.5-d500-m1-snv
10
+ ```
11
+
12
+ To download only one chromosome, add the corresponding include patterns:
13
+
14
+ ```bash
15
+ hf download luoyiming1991/spliceai-mane-v1.5-d500-m1-snv \
16
+ --repo-type dataset \
17
+ --include "data/*chr21.vcf.gz" "data/*chr21.vcf.gz.tbi" \
18
+ --local-dir spliceai-mane-v1.5-d500-m1-snv
19
+ ```
20
+
21
+ ## Verify the release
22
+
23
+ Run checksum verification from the repository root:
24
+
25
+ ```bash
26
+ sha256sum -c SHA256SUMS
27
+ ```
28
+
29
+ On macOS, use:
30
+
31
+ ```bash
32
+ shasum -a 256 -c SHA256SUMS
33
+ ```
34
+
35
+ ## Query a region
36
+
37
+ The VCFs use contig names `1`–`22`, `X`, and `Y`, without a `chr` prefix.
38
+
39
+ ```bash
40
+ bcftools view \
41
+ --regions 21:31705473-31705473 \
42
+ data/spliceai-mane-v1.5-d500-m1.snv.chr21.vcf.gz
43
+ ```
44
+
45
+ Query selected INFO fields:
46
+
47
+ ```bash
48
+ bcftools query \
49
+ --regions 21:31705473-31705473 \
50
+ --format '%CHROM\t%POS\t%REF\t%ALT\t%INFO/SpliceAI\n' \
51
+ data/spliceai-mane-v1.5-d500-m1.snv.chr21.vcf.gz
52
+ ```
53
+
54
+ ## Annotate an existing SNV VCF
55
+
56
+ Normalize and split multiallelic records before annotation. The input must use
57
+ GRCh38 coordinates and contig names compatible with the annotation VCF.
58
+
59
+ ```bash
60
+ bcftools norm \
61
+ --fasta-ref GRCh38.fa \
62
+ --multiallelics -any \
63
+ input.vcf.gz \
64
+ --output-type z \
65
+ --output normalized.vcf.gz
66
+
67
+ tabix --preset vcf normalized.vcf.gz
68
+
69
+ bcftools annotate \
70
+ --annotations data/spliceai-mane-v1.5-d500-m1.snv.chr21.vcf.gz \
71
+ --columns INFO/SpliceAI \
72
+ --output-type z \
73
+ --output annotated.chr21.vcf.gz \
74
+ normalized.chr21.vcf.gz
75
+
76
+ tabix --preset vcf annotated.chr21.vcf.gz
77
+ ```
78
+
79
+ For a genome-wide input, split by chromosome and use the corresponding
80
+ annotation file, then concatenate the annotated outputs in reference contig
81
+ order. The separate VEP integration project will provide a pinned VEP plugin
82
+ and workflow; it is not part of this dataset release.
83
+
84
+ ## SpliceAI field interpretation
85
+
86
+ ```text
87
+ ALLELE|SYMBOL|DS_AG|DS_AL|DS_DG|DS_DL|DP_AG|DP_AL|DP_DG|DP_DL
88
+ ```
89
+
90
+ - `DS_AG`: acceptor-gain delta score
91
+ - `DS_AL`: acceptor-loss delta score
92
+ - `DS_DG`: donor-gain delta score
93
+ - `DS_DL`: donor-loss delta score
94
+ - `DP_AG`, `DP_AL`, `DP_DG`, `DP_DL`: signed positions relative to the variant
95
+
96
+ Scores range from 0 to 1 and are stored to two decimal places. No cutoff is
97
+ applied in the dataset. Delta positions should be interpreted together with
98
+ their corresponding scores, especially when the displayed score is `0.00`.
99
+
100
+ `M=1` means predictions corresponding to annotated splice-site gains and
101
+ unannotated splice-site losses are masked following SpliceAI semantics.
102
+ `D=500` means the reported maximum score and position were selected within a
103
+ 500-nucleotide search distance on either side of the variant.
104
+
105
+ ## Programmatic access with pysam
106
+
107
+ ```python
108
+ import pysam
109
+
110
+ path = "data/spliceai-mane-v1.5-d500-m1.snv.chr21.vcf.gz"
111
+ with pysam.VariantFile(path) as variants:
112
+ for record in variants.fetch("21", 31_705_472, 31_705_473):
113
+ print(record.chrom, record.pos, record.ref, record.alts, record.info["SpliceAI"])
114
+ ```
115
+
116
+ The `pysam.fetch` interval is zero-based, half-open, while `record.pos` is
117
+ one-based as specified by VCF.
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data/spliceai-mane-v1.5-d500-m1.snv.chrX.vcf.gz.tbi ADDED
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data/spliceai-mane-v1.5-d500-m1.snv.chrY.vcf.gz.tbi ADDED
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+ {
2
+ "validation_date": "2026-10-03",
3
+ "endpoint": "https://spliceai-38-xwkwwwxdwq-uc.a.run.app/spliceai/",
4
+ "genome_assembly": "GRCh38",
5
+ "distance": 500,
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+ "mask": 1,
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+ "certificate_verification_disabled": false,
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+ "sets": [
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+ {
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+ "name": "chromosome-balanced-random",
11
+ "sampling_design": "Four uniformly sampled production records per primary chromosome",
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+ "seed": 20261003,
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+ "queries": 96,
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+ "local_unscored": 0,
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+ "position_fields_different": 0,
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+ "max_score_difference": 0.005,
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+ "passed": true
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+ },
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+ {
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+ "name": "chromosome-balanced-high-score",
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+ "sampling_design": "One randomly selected variant-gene pair with maximum local delta score at least 0.20 per primary chromosome",
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+ "seed": 20261004,
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+ "queries": 24,
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+ "max_score_difference": 0.0050000000000000044,
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+ "passed": true
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+ },
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+ "interpretation": "The public VCF stores scores to two decimal places and the Broad response stores three; a maximum difference of 0.005 is consistent with two-decimal quantization."
47
+ }
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+ {
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+ "status": "passed",
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+ "contig": "1",
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