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README.md
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### `motif_human` — CAG repeat insertion (20,000 pairs)
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A 30 bp region
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CAG triplets
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mimicking the pathological trinucleotide repeat
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disorders (Huntington's disease, SCAs, DRPLA).
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(30 bp in, 30 bp out), so the
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patch is identical between
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- Annotations: GENCODE v45 / GRCh38; 9,705 unique genes.
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- Window layout:
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---
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### `motif_human` — CAG repeat insertion (20,000 pairs)
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A 30 bp codon-aligned region beginning 60 bp downstream of the first complete codon of the
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CDS exon is replaced with 10 consecutive CAG triplets
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(`CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG`), mimicking the pathological trinucleotide repeat
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expansions underlying polyglutamine disorders (Huntington's disease, SCAs, DRPLA).
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The substitution is length- and reading-frame-preserving (30 bp in, 30 bp out), so the
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total window remains 8,192 bp. All sequence outside the patch is identical between
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original and perturbed.
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- Annotations: GENCODE v45 / GRCh38; all CDS exons (all ranks); 9,705 unique genes.
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- Window layout: first complete CDS codon always at position 8,102;
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patch always at positions 8,162–8,192 (`patch_start_in_seq`–`patch_end_in_seq`).
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For exons with phase 1 or 2, the 1–2 split-codon bases from the preceding exon are
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placed immediately before position 8,102, so the upstream genomic context is
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8,102 bp (phase 0), 8,101 bp (phase 1), or 8,100 bp (phase 2).
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