SN
Stella Nova Education Research Area

Ascorbate Deficiency Long-Read Analyzer

Anthropological long-read analysis for ascorbate-pathway signals, nutritional stress, older remains, historical samples, and intergenerational research contexts.

v0.1.7-hardening Anthropological research

New analysis

Upload FASTQ/FASTQ.GZ for base QC, VCF for ascorbate-panel variant screening, bedMethyl/TSV for modified-base summaries, mosdepth coverage outputs, and mapDamage/schmutzi/PMDtools-style authentication reports, and external workflow summaries from fastVEP, LongHap/LongPhase, wf-human-variation, PastForward, Mapache, aMeta, Sniffles2, cuteSV, or MultiQC. BAM/SAM are registered for CLI pipeline processing.

Anthropological context

Panel boundary

ADLA evaluates genomic, modified-base, preservation, and contextual evidence relevant to ascorbate stress and scurvy-like vulnerability in anthropological, historical, ancient-remains, and intergenerational research. It does not diagnose vitamin C deficiency or scurvy.

ascorbate transport and homeostasis TET-dependent DNA demethylation and 5hmC biology collagen maturation and connective tissue integrity oxidative stress and iron handling immune and wound-healing context paleopathological and osteological corroboration ancient/historical sample preservation and authenticity differential diagnosis for scurvy-like presentations
Target BED panel generation

Bundled seed windows are active immediately. For full coverage/callability, generate data/target_panels/adla_full_gene_targets.GRCh38.generated.bed from GENCODE/RefSeq using scripts/generate_target_bed.php.

Manual anthropological fields this tool expects outside the sequence file
  • archaeological or historical context
  • sample age class
  • sample material
  • preservation context
  • osteological evidence
  • isotopic or dietary evidence
  • historical or ethnographic dietary context
  • environmental ecological context
  • contamination controls
  • biochemical ascorbate data if modern or available

Methodological Note

ADLA separates sequence-derived signals from anthropological interpretation. Variant, methylation, and coverage results are treated as research evidence only when preservation, sample material, contamination, osteological, isotopic, ecological, and historical context are documented.

Ancient / historical boundary

Older remains require authentication review. Fragment length alone is descriptive; deamination/damage, contamination controls, provenance, extraction/library records, and target callability must be assessed before pathway inference.

Methylation boundary

Direct ONT modified-base calls from native DNA are not equivalent to ancient DNA methylation reconstruction from damage/deamination. The report gates methylation language by sample age and metadata completeness.

Recent runs