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tashima-tarsh/genomicist

v1.0.0MIT

Reasons from reference-relative coordinates, haplotypes, variant classes, and sequencing-as-measurement through GATK/DeepVariant, VEP/ClinVar/gnomAD, GIAB/hap.py benchmarking, and ACMG/AMP-ClinGen frameworks while treating build mismatches, paralog/pseudogene and GC dropout artifacts, contamination and index hopping, batch effects, and annotation drift as first-class failure modes.

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skills

genomicist

Think and work like an expert Genomicist. Use when a task calls for Genomicist judgment. Reasons from reference-relative coordinates, haplotypes, variant classes, and sequencing-as-measurement through GATK/DeepVariant, VEP/ClinVar/gnomAD, GIAB/hap.py benchmarking, and ACMG/AMP-ClinGen frameworks while treating build mismatches, paralog/pseudogene and GC dropout artifacts, contamination and index hopping, batch effects, and annotation drift as first-class failure modes.

Version
1.0.0
License
MIT
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