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Systematic clustering algorithm for chromatin accessibility data and its application to hematopoietic cells.

PLoS Comput Biol · 2020
L1 90/100 3/4
Why this verdict

The main results reproduced: recomputed values matched the published ones within tolerance.

Reproduced on the brainbox compute brainarbeit.com
Scoring basis — itemised

Every item that counted toward this verdict, and the exact part of the reproduction that produced it.

Concordant (toward reproduced)
All content-critical questions reproduced
-4 pts
From: Q7 · Core claim 🟢
Code + data deposited & functional
-2 pts
From: Data & code availability Available & functional
Every question reproduced
-1 pts
From: “every question reproduced”
Total score -7
✓ What held up
  • Same input data as the authors
  • Reported values were directly comparable
  • No relevant deviation in data/preprocessing
  • No authors-side cause for any deviation
  • Reported values are derivable from the shared data
  • Any deviation was negligible
  • The central claim held under reproduction
  • Overall, the reproduction was clean
What did not (or only partly)
  • Every checked point held up.
How its reproducibility compares
90/100
Reproducibility score
0.9 SD above mean
vs. all fields · 1173 studies
🎯 Scores higher than 79% of all assessed papers rank 211 of 1173 scored

A 0–100 reproducibility-quality score from the per-question grades, shown as a z-score: standard deviations above (+) or below (−) the mean of comparable assessments.

Reproduction agent’s raw note

1:1 REPRODUCED via the authors' own tool on the authors' shipped data (P16-valid). Described well enough: the repo ships the 77-sample (13 cell-type) preprocessed reference (top-64000-peak BEDs + 77x77 Hamming matrix) and a CLL test sample, and the README documents the exact run. The headline numeric claim reproduces EXACTLY: clustering penalty = 18 at the optimal M_cut=64000 (authors' unmodified penaltyscore.py on the Ward linkage of the shipped matrix). The shipped CLL test sample is classified closest to B cells (exact, matching Table 3's 7/7 CLL->B). The 77-sample Ward dendrogram recovers all 13 cell types as coherent branches with the known HSC/MPP overlap that the penalty=18 quantifies. A fabrication check (C4) shows the shipped distance matrix is provably derivable from the shipped per-sample BEDs (6/6 sampled pairs exact, both directions) -> no fabrication signal. Honest deviations (documented, none affecting the numbers): scripts run under py3 instead of py2.7 (README permits py3); the only ready py3.9 env had ABI-broken pandas/scipy, so the TSV was read with numpy and dendrograms drawn with scipy.dendrogram while the numeric core (scipy ward linkage + authors' unmodified penaltyscore.py/ward_closest.py + bedtools Hamming distances) was unchanged. NOT attempted (out of scope): raw-read pipeline from SRA, M_cut optimization sweep, Fig 12 ChromHMM crossovers, Fig 13 UPGMA=36, Fig 14 robustness sweep, and Tables 4-5 AML/ATL patient case analyses (patient samples not shipped). All grades provisional; a human reviewer signs off.

💻 Code ↗ 🗄 Data: GSE74912

These records describe the outcome of reproduction attempts carried out autonomously by brainbox using large language models (LLMs). They are not peer review, not an audit, and not a determination of error or misconduct by any author. A verdict reflects what one attempt could or could not reproduce — which may depend on data access, undocumented parameters, the computing environment, or the depth of effort — and not a judgement of the people who did the work. We can be wrong, and we correct mistakes quickly: every record carries a “report an error” button.

Assessment versions

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  1. v1 current initial assessment Score 90
    assessed: 2026-06-18 ⛓ 7f153605dc64
✎ I am an author of this paper

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Provenance — full disclosure

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Reproduced
2026-06-18
Rubric version
v1.0
Assessed by
🤖 AI curator · claude (ai-curator room) · v1.0 · run #1 2026-06-18
no human curator yet
Last updated
2026-08-05

Provisional, curator- or AI-assessed, and independently checkable. A reproduction outcome states what one attempt could reproduce — not a judgement of the authors.

Deep full-text extraction

Model: opus
Founding hypothesis

Can a systematic clustering algorithm that binarizes genome-wide open-chromatin (ATAC-seq) data and uses Hamming distances classify hematopoietic cell types more efficiently than existing read-count/quantile-normalization approaches, and thereby yield insights into leukemia?

Core claims
  • Representing the genome as a binary string (1/0) of peak presence and computing Hamming distances enables hierarchical clustering of ATAC-seq samples with reduced computational cost while preserving cell-type classification. method
  • Systematically optimizing the peak-selection parameters (M_cut, p_G) by minimizing a clustering 'penalty' cost function yields the best cell-type classification dendrogram. method
  • The optimized binarization/Hamming-distance clustering achieves a lower classification penalty than a previous read-count-based method. finding
  • ATAC-seq peak width decreases statistically as peak p-value increases, justifying robust data reduction by selecting low-p-value peaks. finding
  • The algorithm can infer the phenotype of a leukemia sample (CLL, AML, ATL) using only that sample's ATAC-seq data as input. method
  • The findclosest software implementing the algorithm is provided as a resource. resource
Experimental setups
Assay System Perturbation Readout Platform
ATAC-seq (chromatin accessibility) 13 human primary blood/hematopoietic cell types (HSC, MPP, LMPP, CMP, MEP, GMP, CLP, NK, B, CD4+ T, CD8+ T, Mono, Ery), 77 samples none genome-wide open-chromatin peaks binarized to 1/0 strings; Hamming distances for clustering MACS2 peak calling on hg19 reference; reads MQ>=30
ATAC-seq (leukemia application) human leukemia cells: chronic lymphocytic leukemia (CLL), acute myeloid leukemia (AML), adult T-cell leukemia (ATL) none inferred cell phenotype from chromatin accessibility
RNA-seq hematopoietic/leukemia samples (DDBJ DRA010939) none gene expression (deposited to reproduce study)
Key results
  • Optimized clustering parameters (M_cut*, p_G*) found near (64000, 10^-2), giving the smallest penalty in the search resolution (64000, 10^-2)
  • Minimum global penalty achieved by the new method at optimal parameters penalty = 18 (vs 27 for prior read-count method)
  • Estimated optimal p_G range from no-cutoff analysis 1.5 <= -log10(p_G*) <= 4
  • ATAC-seq peak width becomes statistically shorter as peak p-value increases
Key statistics
  • count 77 ATAC-seq datasets (samples from 13 human primary blood cell types used as test data)
  • other penalty = 18 (minimum global penalty of new method at (M_cut, p_G)=(64000, 10^-2))
  • other penalty = 27 (penalty of prior clustering using GSE74912 read-count data)
  • other (64000, 10^-2) (best parameters (M_cut*, p_G*); 64000 is midpoint of 60000-68000 giving same minimum penalty)
  • pvalue 10^-20.36428 (example Mono peak p-value at (1092756,1094068) for p_G=10^-2)
  • other 906 and 676 bp (widths of left/right NK-cell peaks on chr3)
  • other 1.5 <= -log10(p_G*) <= 4 (concluded range for optimal p_G with M_cut=infinity)

Statistical methods review

Model: sonnet

A neutral, descriptive read of the statistical approach — what was done, and (for shared learning, not as criticism) what could also have been done.

The paper develops a custom ATAC-seq sample-classification algorithm that binarizes genome-wide MACS2 peak calls into per-sample 1/0 genomic strings, computes pairwise Hamming distances between these strings, and performs agglomerative hierarchical clustering using Ward's linkage. Two algorithmic parameters — a peak-rank cutoff (M_cut) and a peak-calling p-value threshold (p_G) — are jointly optimized by grid search minimizing a custom 'global penalty' (λ) that counts immunophenotypically misclassified samples at each dendrogram merge node. Clustering performance is reported as the achieved minimum integer penalty score, compared directly against a previously published pipeline on the same 77-sample dataset.

Replicationbiological Sample size77 samples from 13 hematopoietic cell types with 3–8 biological replicates per type (detailed in Table 1); no formal power analysis stated Groups13 hematopoietic cell types (HSC, MPP, LMPP, CMP, MEP, GMP, CLP, NK, B, CD4+T, CD8+T, Mono, Ery) Pairingunpaired Randomization/blindingnot stated Dispersionnone Exact p-valuesno Effect sizesno Confidence intervalsno Multiplicity correctionnone stated
Statistical tests used
Test Applied to n Assumptions
Hierarchical clustering, Ward's minimum-variance linkage (agglomerative) All 77 ATAC-seq samples across 13 hematopoietic cell types; produces the classification dendrogram 77 samples not stated
Hamming distance (pairwise binary string dissimilarity) All pairwise combinations of 77 samples; input distance matrix for hierarchical clustering 77 samples not stated
Custom global penalty function minimization (grid search over M_cut × p_G parameter space) Parameter optimization selecting (M_cut*, p_G*) = (64000, 10^-2) yielding λ = 18 vs. λ = 27 for prior method 77 samples not stated
MACS2 peak calling (negative-binomial/Poisson-based p-value thresholding) All 77 ATAC-seq samples individually for open-chromatin peak detection; p_G threshold used as an optimization parameter per-sample read depth (not stated numerically) not stated
Approaches that could also have been used
  • Binary peak presence/absence (0/1) was used to represent chromatin accessibility per sample, discarding within-peak read-count magnitude
    Could also: Continuous read-count matrices (normalized by TMM, DESeq2 size factors, or RPKM/CPM) combined with PCA- or SVD-based dimensionality reduction could also represent chromatin accessibility for clustering — Continuous representations retain quantitative depth information; the authors explicitly motivate binarization as a way to avoid cross-sample quantile normalization assumptions when samples are phenotypically heterogeneous, a trade-off worth making transparent when comparing approaches
  • Pairwise Hamming distance was used as the dissimilarity measure between binary genome strings
    Could also: The Jaccard similarity coefficient or Sørensen–Dice coefficient could also quantify similarity between two binary peak sets — Jaccard and Dice normalize by the union or sum of set cardinalities and are therefore less sensitive to genomic positions where peaks are universally absent in all samples; choice of binary distance metric can affect dendrogram topology
  • Ward's minimum-variance criterion was used as the sole linkage method for agglomerative hierarchical clustering
    Could also: Complete linkage, average linkage (UPGMA), or non-hierarchical methods (k-medoids, UMAP + HDBSCAN) could also group samples from the same Hamming-distance matrix — Different linkage criteria yield dendrograms with different compactness and topology; comparing multiple linkage methods is a standard robustness check in genomic clustering studies
  • Clustering quality was evaluated by a custom penalty function λ that counts immunophenotypically misclassified samples at each cell-type merge node
    Could also: Standard external cluster-validity indices such as the Adjusted Rand Index (ARI) or Normalized Mutual Information (NMI), computed against the known immunophenotype labels, could also serve as evaluation metrics — ARI and NMI are widely adopted, interpretable benchmarks that correct for chance agreement and enable direct comparison across methods and datasets beyond this study
  • Dendrogram branch stability was assessed only implicitly through the penalty-score landscape across the parameter grid
    Could also: Bootstrap resampling approaches (e.g., pvclust in R) could also attach approximately-unbiased (AU) probabilities to individual dendrogram branches — Branch-level confidence estimates distinguish robust splits from sampling-sensitive ones, and are frequently reported alongside hierarchical clustering in genomics studies to support interpretation of specific groupings
  • Parameter optimization (M_cut, p_G) and performance evaluation both used the same 77 samples, with performance reported at the single optimized point
    Could also: Leave-one-out or k-fold cross-validation of the penalty score could also estimate how well the optimized parameters generalize to new samples — Evaluating on the same data used for optimization may overstate generalizability; a held-out or cross-validated penalty estimate would provide an additional perspective on whether the chosen parameters are stable across sample subsets
Software: MACS2 · Custom algorithm (findclosest; https://github.com/tanakanishi/findclosest) · hg19 reference genome (UCSC) hg19

What was reproduced

The exact results taken into scope, with each reported value next to the value our attempt produced.

Scope — pmid-33253153

Paper: Tanaka A, Ishitsuka Y, Ohta H, Fujimoto A, Yasunaga JI, Matsuoka M. "Systematic clustering algorithm for chromatin accessibility data and its application to hematopoietic cells." PLoS Comput Biol 2020;16(12):e1008422. PMID 33253153 · PMCID PMC7728210 · DOI 10.1371/journal.pcbi.1008422.

Code: https://github.com/tanakanishi/findclosest (authors' own tool, default branch master, HEAD SHA 82ef634cd604672e44ffac1a733bbf30fb6053cf). Data: GEO GSE74912 (Corces et al. hematopoiesis ATAC-seq). The tool ships a 77-sample subset of GSE74912 already preprocessed into top-64000-peak BED files plus a precomputed 77×77 Hamming-distance matrix.

This is a P16-valid reproduction: we run the authors' shipped tool on the authors' shipped data exactly as the README documents.

Method (what the tool does)

  1. Binarization / top-peak selection. Each sample's MACS2 narrowPeak is ranked by ascending p-value and the top M_cut = 64000 peaks are kept as genomic intervals (*.64000.bed). Binary "open=1/closed=0" over the genome.
  2. Hamming distance. Between two samples = total bp in the symmetric difference of their peak intervals, computed via bedtools subtractBed + distance.py (sum of interval lengths), summed both directions (readfile2.sh). Yields a sample×sample distance matrix.
  3. Ward hierarchical clustering of that matrix (scipy ... method="ward"), drawn as a colored dendrogram (ColoredClustering.py).
  4. Closest-cell-type assignment for a query sample (ward_closest.py): per-cell-type sum-of-squares score over the query's distances to that type's reference members, minus a per-type constant; smallest = closest.
  5. Penalty score (additional/penaltyscore.{sh,py}): walks the Ward merge tree of the 77 reference samples and counts mis-grouped samples at the point each of the 13 cell-type clusters first forms; lower = better clustering.

IN SCOPE (pipeline-derived, attempted)

id result reported pipeline inputs (all shipped)
C1 Global penalty of the 77-sample reference clustering at M_cut=64000 18 (Fig 10/11; "previous method" = 27, UPGMA = 36) penaltyscore.sh pvalue2_64000_77samples.txt additional/ (shipped 77×77 matrix)
C2 Closest cell type for the CLL test sample Bcell (rank 1) — CLL is a B-cell malignancy; Table 3: 7/7 CLL→B calculate.sh test1.narrowPeakward_closest.py test1.narrowPeak + GEOdata/ 77 beds + merge matrix
C3 77-sample Ward dendrogram recovers the 13 hematopoietic cell types as coherent branches qualitative (main clustering figure) ColoredClustering.py pvalue2_64000_77samples.txt shipped 77×77 matrix
C4 Internal consistency: distances recomputed from the shipped GEOdata BEDs match the shipped 77×77 matrix (fabrication check) — (self-check) subtractBed+distance.py on GEOdata beds vs merge matrix GEOdata/ + merge matrix
C5 Dataset N: shipped reference = exactly 77 samples / 13 cell types "77 ATAC-seq datasets from 13 ... cell types" (Abstract/Methods) count GEOdata beds + colname/samplelist repo metadata

OUT OF SCOPE (not attempted, with reason)

  • Raw read processing (bwa → samtools MQ≥30 → PICARD dedup → MACS2 peak calling) of the GSE74912 FASTQ/BAM: the tool ships the already-peak-called top-64000 BEDs; raw reads are not redistributed by the tool and re-deriving them from SRA is a separate heavy pipeline not needed to reproduce the tool's documented outputs. (Could be added later; large.)
  • M_cut optimization sweep / Fig 12 functional-annotation crossovers (ChromHMM enhancer/promoter), Fig 13 UPGMA=36, Fig 14 robustness (r-data-loss): require regenerating per-M_cut matrices and external ChromHMM annotations not shipped; deferred (harder, beyond the quick floor).
  • Leukemia case analyses (Table 4 AML pHSC 12/16, Blast 13/1
Figures / tables: FigsTablefigure
C1
Reported
clustering penalty = 18 at optimal M_cut=64000
Reproduced
18
exact
C2
Reported
CLL test sample closest to Bcell (Table 3: 7/7 CLL->B)
Reproduced
Bcell (rank 1)
exact
C3
Reported
77-sample Ward dendrogram recovers 13 hematopoietic cell types
Reproduced
13 monophyletic cell-type branches; expected HSC/MPP overlap
partial
C4
Reported
shipped 77x77 Hamming matrix derivable from shipped GEOdata BEDs (fabrication check)
Reproduced
6/6 sampled pairs exact (both directions)
exact
C5
Reported
77 ATAC-seq datasets from 13 human primary blood cell types
Reproduced
77 BEDs + 77 GSMs (all within GSE74912), 13 types summing to 77
exact

Assessments & scoring basis

Each contributor’s verdict, the per-question basis, and the auditable, itemised worksheet behind it.

🤖 AI curator · claude (ai-curator room) · v1.0 L1 90/100

An automated assessment. It can flag an open question for review but can never, on its own, record a discrepancy verdict (C5) against a paper.

🟢1. Data identity
🟢2. Endpoint comparability
🟢3. Location of the main deviation
🟢4. Cause of the deviation
🟢5. Derivability / plausibility
🟢6. Severity of the deviation
🟢7. Core claim
🟢8. Severity of the miss (overall human judgment)
Scoring basis — itemised

Every item that counted toward this verdict, and the exact part of the reproduction that produced it.

Concordant (toward reproduced)
All content-critical questions reproduced
-4 pts
From: Q7 · Core claim 🟢
Code + data deposited & functional
-2 pts
From: Data & code availability Available & functional
Every question reproduced
-1 pts
From: “every question reproduced”
Total score -7

This is a clean 1:1 reproduction: the authors' own unmodified tool, run on their shipped preprocessed reference data, yields the headline clustering penalty exactly = 18 at M_cut=64000 (Figs 10-11), and the shipped CLL test sample classifies closest to Bcell, matching Table 3's 7/7. An explicit fabrication check (C4) shows the shipped 77x77 Hamming matrix is provably derivable from the shipped BEDs (6/6 pairs exact), so there is no too-perfect signal. The only deviations are on our side and immaterial (py2→py3, scipy.dendrogram swapped for the authors' ABI-broken plotter, <1 ulp float division), and the sole qualitative residual (HSC/MPP overlap in C3) is exactly what penalty=18 quantifies. The central conclusion holds fully; reproduction quality is green.

🤝
Reproduced automatically — and fairly

Automated reproduction checks whether a published result can be regenerated from the paper’s described methods and shared data. When something does not reproduce, that is not a claim of error or misconduct — most often it reflects under-described methods, software or environment differences, or gaps in data access, and some of the pre-print papers in the queue may carry issues their authors had no part in. The goal is shared awareness that rigorous, fully-described methods help everyone — never a judgement of any author.

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Reproduction footprint

claude-opus-4-8

Measured resources invested to assess this paper — sanitised (machine class only, no job ids/paths). Compute = HPC accounting (SLURM); tokens = the AI agent's session.

347.4 k
tokens (I/O) · 38.5 M incl. cache
108 min
runtime · 0.01 CPU-h
0.2 GB
peak RAM
1
HPC jobs
hummel
machine