Experiments

Searchable full-text extractions: founding hypothesis, core claims, experimental setups, key results and statistics — pulled out of each paper as structure. Search a cell line, an assay or an entity (e.g. HUH7) and find every paper that worked with it. This corpus stands on its own: most entries carry no reproduction assessment (yet).

• Identity rather than 3D position informs splicing of rare introns in the human genome.

  PMID 41561379 · PMC12814444 · iScience · 2026 · 8 claims · 8 setups

  Has reproduction · 98

  Rare intron classes (minor, minor-like, hybrid, non-canonical) are largely dispersed across the linear human genome, with only two notable clusters (GBP on chr1, TSPY on chrY)

  reference genome k562 computational genome-wide chromomap hi-c

• Rare variant analyses provide insights into the genetic architecture of endometriosis.

  PMID 41736152 · PMC13001359 · Human genomics · 2026 · 7 claims · 8 setups

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  Gene-based burden testing of rare LoF and deleterious missense variants identifies SOGA1 as significantly associated with endometriosis after Bonferroni correction

  unrelated finngen biobank soga1 exome gene-based protein-protein

• Cell neighborhood topology directs rare cell population identification.

  PMID 41912521 · PMC13199379 · Nature communications · 2026 · 8 claims · 8 setups

  Full-text index only

  RareQ is a framework that quantifies neighborhood connectivity (Q), a cell-specific measure of kNN-graph cliquishness, to detect rare cell populations from single-cell and spatial omics data

  downsampled pbmc brain simulated scrna-seq cite-seq single-cell

• Evolution of genomic sequence inhomogeneity at mid-range scales.

  PMID 19891785 · PMC2779198 · BMC genomics · 2009 · 7 claims · 3 setups

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  MRI regions have comparable levels of de novo mutations to control genomic sequences with average base composition.

  chimpanzee population genome whole-genome snp indel

• Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage.

  PMID 32367296 · PMC7419486 · Journal of neurology · 2020 · 8 claims · 6 setups

  Has reproduction · 78

  Sequence variants in PCNT, RNF213 and THSD1 support a role as susceptibility factors for cerebrovascular disease (UIA/aSAH)

  unrelated affected additional 75-patient exome sanger gene

• Accelerating rare disease diagnostics by linking DNA and RNA through an explainable and interactive RNA-guided workflow.

  PMID 41685349 · PMC12891912 · NAR genomics and bioinformatics · 2026 · 8 claims · 6 setups

  Has reproduction

  A streamlined RNA-guided workflow combining OUTRIDER, FRASER, Borzoi, and MOLGENIS VIP was developed to identify gene-disease associations by linking outlier gene expression/splicing to prioritized patient-level variants

  udn blood clinvar wgs wgs bulk rna-seq

• Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

  PMID 39039281 · PMC11319204 · Nature genetics · 2024 · 6 claims · 5 setups

  Has reproduction · 87

  A structured multidisciplinary exome sequencing framework established molecular genetic diagnoses in 32% of patients with suspected ultrarare disorders, comprising 370 distinct molecular causes.

  patients exome deep computer-assisted

• High-throughput discovery of rare human nucleotide polymorphisms by Ecotilling.

  PMID 16893952 · PMC1540726 · Nucleic acids research · 2006 · 7 claims · 6 setups

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  Ecotilling can be adapted to accurately discover and genotype human SNPs, with error rates low relative to resequencing

  genomic ecotilling non-synonymous ecotilling sanger universal-primer

• Application of qualifying variants for genomic analysis.

  PMID 41570118 · PMC12926777 · Bioinformatics (Oxford, England) · 2026 · 7 claims · 4 setups

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  QVs should be treated as dynamic, multifaceted elements permeating the entire analysis workflow, not as a single static filtering step

  in-house hapmap3 genome framework exome gwas wgs

• BayesRare: Bayesian mixture model for population-level rare cell type detection in multi-subject single-cell RNA sequencing data.

  PMID 41632592 · PMC12867491 · Briefings in bioinformatics · 2026 · 8 claims · 4 setups

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  BayesRare is a hierarchical Bayesian mixture model framework for population-level rare cell type detection in multi-subject scRNA-seq data

  synthetic breast kidney parkinson's scrna-seq

• Construction and analysis of tag single nucleotide polymorphism maps for six human-mouse orthologous candidate genes in type 1 diabetes.

  PMID 15720714 · PMC551616 · BMC genetics · 2005 · 7 claims · 5 setups

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  None of the six candidate gene regions showed evidence of association with type 1 diabetes (all multi-locus/single-locus test P values > 0.2)

  genomic case-control nramp1 type sanger snp microsatellite

• DNA bar coding and pyrosequencing to identify rare HIV drug resistance mutations.

  PMID 17576693 · PMC1934997 · Nucleic acids research · 2007 · 6 claims · 7 setups

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  DNA bar coding combined with pyrosequencing allows parallel, deep characterization of drug resistance mutations across many HIV populations in a single experiment

  hiv pooled plasma pyrosequencing conventional rt-pcr

• Single-cell spatial analysis stratifies lung adenocarcinoma with rare actionable mutations and reveals immune-modulatory cellular crosstalk.

  PMID 42013848 · PMC13198233 · Cell reports. Medicine · 2026 · 8 claims · 8 setups

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  Consensus meta-program (MP) expression patterns stratify LUAD patients with rare and reference oncogenic mutations into ICI-MP-H and ICI-MP-L subgroups reflecting differential predicted ICI benefit

  luad matched tcga epithelial single-cell multiplex bulk

• Cryptosporidium: genomic and biochemical features.

  PMID 19187778 · PMC2819285 · Experimental parasitology · 2010 · 8 claims · 8 setups

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  C. parvum lacks a plastid and mitochondrial genome, unlike other apicomplexans, limiting plastid-targeted drug strategies

  parvum yeast recombinant gp40 pulsed-field happy genome

• Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.

  PMID 40963120 · PMC12445032 · Genome medicine · 2025 · 7 claims · 4 setups

  Has reproduction · 88

  Trio genome sequencing (tGS) achieves higher prospective diagnostic yield than standard-of-care (SoC) and singleton genome sequencing (sGS) even when performed by a newly trained team.

  individuals index blood short-read exome array

• Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

  PMID 30578418 · PMC6365102 · Nature genetics · 2019 · 7 claims · 8 setups

  Has reproduction

  208 novel common blood pressure SNPs and 53 rare variants were discovered in GWASs of SBP, DBP and pulse pressure in up to 776,078 participants from MVP and collaborating studies.

  multi-ethnic mvp tissues kidney genome-wide exome transcriptome-wide

• Isolated populations and complex disease gene identification.

  PMID 18771588 · PMC2575505 · Genome biology · 2008 · 8 claims · 5 setups

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  Isolated/founder populations are useful for identifying genes underlying common complex diseases, not just rare monogenic diseases.

  genetically icelandic finnish hutterites linkage genome-wide

• ProtoCloud: A prototypical self-explaining model for single-cell analysis.

  PMID 41997134 · PMC13261663 · Cell genomics · 2026 · 8 claims · 8 setups

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  ProtoCloud matches or outperforms existing annotation methods across 11 large-scale datasets, particularly for rare cell types

  diverse pbmc10k pbmc30k tsca scrna-seq latent gene

• AXOLOTL: an accurate method for detecting aberrant gene expression in rare diseases using coexpression constraints.

  PMID 42083807 · PMC13198384 · Bioinformatics (Oxford, England) · 2026 · 8 claims · 6 setups

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  AXOLOTL is a novel ensemble outlier detection method that incorporates coexpression constraints to detect aberrant gene expression events in RNA expression matrices.

  gtex skin-derived skeletal ly111 bulk shap

• Bushes in the tree of life.

  PMID 17105342 · PMC1637082 · PLoS biology · 2006 · 8 claims · 8 setups

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  Bush-shaped clades, produced by short internal stems and long external branches, resist phylogenetic resolution regardless of the amount of conventional data collected.

  chimpanzee elephant coelacanth metazoan multi-gene rare nuclear