Datasets:
Fix motif_human patch description
Browse files
README.md
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@@ -284,7 +284,7 @@ altered — and asks whether the model assigns higher log-likelihood to the orig
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### `syn_human` · `syn_mouse` — Synonymous codon substitution (20,000 pairs each)
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Codons within a real CDS are replaced with the highest-frequency synonym for the target
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species, while the upstream and
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downstream flanking sequence is left unchanged. Amino acid identity is preserved by
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construction. The model should prefer the natural codon usage over the artificially
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optimised variant.
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@@ -298,15 +298,15 @@ optimised variant.
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### `motif_human` — CAG repeat insertion (20,000 pairs)
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A 30 bp region
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mimicking the pathological trinucleotide repeat expansions underlying polyglutamine
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disorders (Huntington's disease, SCAs, DRPLA). The substitution is length-preserving
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(30 bp in, 30 bp out), so the total window remains 8,192 bp. All sequence outside the
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patch is identical between original and perturbed.
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- Annotations: GENCODE v45 / GRCh38; 9,705 unique genes.
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- Window layout: 8,
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---
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### `syn_human` · `syn_mouse` — Synonymous codon substitution (20,000 pairs each)
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| 285 |
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Codons within a real CDS are replaced with the highest-frequency synonym for the target
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species (`recoding_mode = "optimize"`, `optimization_rate = 1.0`), while the upstream and
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downstream flanking sequence is left unchanged. Amino acid identity is preserved by
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construction. The model should prefer the natural codon usage over the artificially
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optimised variant.
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### `motif_human` — CAG repeat insertion (20,000 pairs)
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A 30 bp region starting 60 bp downstream of the CDS start is replaced with 10 consecutive
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CAG triplets (`CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG`),
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mimicking the pathological trinucleotide repeat expansions underlying polyglutamine
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disorders (Huntington's disease, SCAs, DRPLA). The substitution is length-preserving
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| 305 |
(30 bp in, 30 bp out), so the total window remains 8,192 bp. All sequence outside the
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patch is identical between original and perturbed.
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- Annotations: GENCODE v45 / GRCh38; 9,705 unique genes.
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- Window layout: ~8,100 bp upstream flank, CDS near the right edge.
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---
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