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SEPIA — source-paper references & data provenance (every genome)

SEPIA — source-paper references & data provenance (every genome)

Provenance for every genome in the project, verified against MPI-EVA / ENA / the source papers (2026-07-23). This is the citation + data-source manifest; it feeds the Q1 provenance manifest.

On the PDFs. Actual paper PDFs are downloaded into plan/papers/pdf/ which is git-ignored — the repo is public and most of these are paywalled (Nature/Science/PNAS), so committing them would redistribute copyrighted material. Open-access / author-copy / preprint PDFs were pulled automatically (marked ✅ local); paywalled ones are linked for download via institutional (UMich) access into the same folder (marked 🔒).

Two clarifications that matter for the reanalysis:


Tier A — high-coverage archaics: use the published snpAD genotype VCFs (don't re-call)

Genome Site · type Coverage Paper DOI Data (VCF / BAM) PDF
Altai Neanderthal (= Denisova 5) Denisova Cave · Neanderthal ~52× Prüfer et al. 2014, Nature 505:43–49 10.1038/nature12886 VCF (snpAD 2017 reprocess): cdna.eva.mpg.de/neandertal/Vindija/VCF/Altai/chr{1..22,X}_mq25_mapab100.vcf.gz; original: cdna.eva.mpg.de/neandertal/altai/AltaiNeandertal/VCF/; BAM: .../AltaiNeandertal/bam/ 🔒 Nature
Vindija 33.19 Vindija Cave, Croatia · Neanderthal ~30× Prüfer et al. 2017, Science 358:655–658 10.1126/science.aao1887 VCF: cdna.eva.mpg.de/neandertal/Vindija/VCF/Vindija33.19/chr{1..22,X}_mq25_mapab100.vcf.gz; ENA PRJEB21157; BAM under ftp.eva.mpg.de/neandertal/Vindija/ ✅ pruefer2017_vindija33_science.pdf
Chagyrskaya 8 Chagyrskaya Cave · Neanderthal ~27–28× Mafessoni et al. 2020, PNAS 117:15132–15136 10.1073/pnas.2004944117 VCF: ftp.eva.mpg.de/neandertal/Chagyrskaya/VCF/chr{1..22,X}.noRB.vcf.gz; mask: .../Chagyrskaya/FilterBed/; BAM: .../Chagyrskaya/BAM/ 🔒 PNAS (PMC likely OA)
Denisova 3 Denisova Cave · Denisovan ~30× Meyer et al. 2012, Science 338:222–226 10.1126/science.1224344 VCF (snpAD 2017): cdna.eva.mpg.de/neandertal/Vindija/VCF/Denisova/chr{1..22,X}_mq25_mapab100.vcf.gz; original: cdna.eva.mpg.de/denisova/VCF/human/; BAM: cdna.eva.mpg.de/denisova/BAM/ 🔒 Science
Denisova 25 ⚠ preprint Denisova Cave (S. Chamber, ~200 ka molar) · Denisovan ~24× Peyrégne et al. 2025, bioRxiv 10.1101/2025.10.20.683404 VCF: cdna.eva.mpg.de/denisova/Den25/VCF/chr{1..22,X,Y}.Den25.L35MQ25.B30.map35_100.vcf.gz; mask: .../Den25/FilterBed/; BAM: .../Den25/BAM/ ✅ den25_peyregne2025_biorxiv.pdf

The Altai + Vindija 33.19 + Denisova 3 VCFs share one 2017 snpAD release (same pipeline, reference, filters, one README) → most directly comparable, and the Mez1 low-cov snpAD calls sit in the same release tree. The original Altai (2014) and Denisova 3 (2012) releases are GATK UnifiedGenotyper calls — prefer the snpAD reprocess for a harmonized cohort. Chagyrskaya 8 and Denisova 25 are separate snpAD releases with their own masks — apply each release's FilterBed and harmonize before merging (see VCF_QC.md). Denisova 25 is a preprint whose data are not yet deposited → provisional. The published VCFs are not the final call set — the companion FilterBed mask (cov≥10, GC central-95%, tandem-repeats, indels) must be applied on top.

Tier B — low-coverage archaics: BAM only → ANGSD genotype likelihoods (no published VCF)

Genome Site · type Coverage Paper DOI Archive PDF
Denisova 11 "Denny" Denisova Cave · F1 hybrid (Nea mother × Den father) ~2.6× Slon et al. 2018, Nature 561:113–116 10.1038/s41586-018-0455-x ENA PRJEB24663 (raw); BAM 🔒 Nature
Goyet Q56-1 Goyet, Belgium · late Neanderthal 2.2× Hajdinjak et al. 2018, Nature 555:652–656 10.1038/nature26151 ENA PRJEB21870; EVA neandertal/GoyetQ56-1/ 🔒 (OA: PMC6485383)
Les Cottés Z4-1514 Les Cottés, France · late Neanderthal 2.7× Hajdinjak et al. 2018 10.1038/nature26151 ENA PRJEB21875; EVA LesCottes_Z4-1514/ 🔒 (OA: PMC6485383)
Spy 94a Spy, Belgium · late Neanderthal 1.0× Hajdinjak et al. 2018 10.1038/nature26151 ENA PRJEB21883; EVA Spy94a/ 🔒 (OA: PMC6485383)
Mezmaiskaya 2 Mezmaiskaya, Russia · late Neanderthal (~44 ka) 1.7× Hajdinjak et al. 2018 10.1038/nature26151 ENA PRJEB21881; EVA Mezmaiskaya2/ 🔒 (OA: PMC6485383)
Vindija 87 (= Vi 33.19 individual) Vindija, Croatia · late Neanderthal 1.3× Hajdinjak et al. 2018 10.1038/nature26151 ENA PRJEB21882; EVA Vindija87/. Called genotypes: use the Vi 33.19 VCF (Tier A). 🔒 (OA: PMC6485383)
Mezmaiskaya 1 Mezmaiskaya, Russia · Neanderthal (~65 ka) ~0.5× + 1.4× ≈ 1.9× Prüfer et al. 2017 (added); Prüfer 2014 (orig.) 10.1126/science.aao1887 ENA PRJEB21195; a low-cov snpAD VCF EXISTS: cdna.eva.mpg.de/neandertal/Vindija/VCF/Mez1/ (+ BAM Mezmaiskaya1/) ✅ (Prüfer 2017 pdf)
Hohlenstein-Stadel Hohlenstein-Stadel, Germany · early Neanderthal (~120 ka) ~0.05× (168 Mbp) Peyrégne et al. 2019, Sci. Adv. 5:eaaw5873 10.1126/sciadv.aaw5873 ENA PRJEB29475; EVA Hohlenstein-Stadel/BAM/All_sequences/L5386.bam ✅ peyregne2019_hst_scladina_sciadv.pdf
Scladina I-4A Scladina, Belgium · early Neanderthal (~120 ka) ~0.02–0.03× (78 Mbp) Peyrégne et al. 2019 10.1126/sciadv.aaw5873 ENA PRJEB29475 (2° ERP111781); run ERR9741105 = G2160.bam; EVA Scladina/BAM/ ✅ (Peyrégne 2019 pdf)

Tier C — no usable genome-wide data (excluded → 14 analyzed, not 15)

Genome Status Paper DOI Note
El Sidrón 1253 exome-capture only (~12.5× over coding regions); no shotgun whole-genome Castellano et al. 2014, PNAS 111:6666–6671 10.1073/pnas.1405138111 EVA neandertal/exomes/ (BAM+VCF, coding only). Not comparable to the genome-wide panel → correctly excluded.

Modern reference & methods

Item Paper DOI Source
SGDP (15 moderns used) Mallick et al. 2016, Nature 538:201–206 10.1038/nature18964 Seven Bridges CGC, remapped to hs37d5/hg19 (sgdp_merge LP-IDs recorded in the Q1 manifest)
snpAD genotyper (the high-cov VCF caller) Prüfer 2018, Bioinformatics 34:4165–4171 10.1093/bioinformatics/bty507 damage-aware ancient-DNA genotyper
Reference genome hs37d5 / GRCh37 (hg19) — 1000 Genomes decoy build; all archaic BAMs and SGDP are aligned to it

Flagged / unconfirmed

PDFs downloaded locally: den25_peyregne2025_biorxiv.pdf, pruefer2017_vindija33_science.pdf, peyregne2019_hst_scladina_sciadv.pdf. Paywalled papers (Prüfer 2014, Meyer 2012, Slon 2018, Mafessoni 2020, Hajdinjak 2018, Castellano 2014, Mallick 2016) → download via UMich library into plan/papers/pdf/ using the DOIs above.