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).
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Has reproduction · 73
Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.
PMID 29221171 · PMC5707065 · Oncotarget · 2017 · 8 claims · 6 setups
A customised SAAV peptide database built from RNA-seq/WGS variant calls can be used to search proteomics data and detect single amino acid variant (SAAV)-containing peptides at the protein level
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Has reproduction · 92
Similarities and Differences in Gene Expression Networks Between the Breast Cancer Cell Line Michigan Cancer Foundation-7 and Invasive Human Breast Cancer Tissues.
PMID 34056582 · PMC8155268 · Frontiers in artificial intelligence · 2021 · 8 claims · 8 setups
MCF-7 cell lines and human breast cancer tissues share only minimal similarity in biological processes, though fundamental functions such as cell cycle are conserved
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High-resolution, high-throughput HLA genotyping by next-generation sequencing.
PMID 19845894 · PMC4205125 · Tissue antigens · 2009 · 7 claims · 5 setups
Clonal 454 sequencing reads (>250 nt) are long enough to span HLA exons and set phase of linked polymorphisms, resolving ambiguities inherent to Sanger-based heterozygote sequencing.
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Has reproduction · 64
Nimbus: a design-driven analyses suite for amplicon-based NGS data.
PMID 29538618 · PMC6084620 · Bioinformatics (Oxford, England) · 2018 · 7 claims · 4 setups
Nimbus is an end-to-end software suite for amplicon-based NGS data that tracks source amplicons through alignment and variant calling, with tools for trimming, alignment, SNP/InDel calling, QC and visualization.
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Has reproduction · 82
Landscape of allele-specific transcription factor binding in the human genome.
PMID 33980847 · PMC8115691 · Nature communications · 2021 · 8 claims · 6 setups
A novel statistical framework (ADASTRA) calls allele-specific TF binding from existing ChIP-Seq alignments by jointly correcting for background allelic dosage (BAD, from aneuploidy/CNVs) and reference mapping bias.
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Has reproduction · 50
TOSCA: an automated Tumor Only Somatic CAlling workflow for somatic mutation detection without matched normal samples.
PMID 36699358 · PMC9710689 · Bioinformatics advances · 2022 · 6 claims · 2 setups
TOSCA is the first automated, open-source, end-to-end tumor-only somatic calling workflow for WES and targeted panel sequencing data.
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Has reproduction · 89
Evaluating sequence data quality from the Swift Accel-Amplicon CFTR Panel.
PMID 31913291 · PMC6949293 · Scientific data · 2020 · 6 claims · 7 setups
The Accel-Amplicon CFTR panel generates sequencing data with high coverage depth and near 100% on-target reads.
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Has reproduction · 75
Sequencing of human genomes with nanopore technology.
PMID 31015479 · PMC6478738 · Nature communications · 2019 · 8 claims · 7 setups
A novel single-sample, reference panel-free, read-based phasing algorithm built on the STITCH model improves nanopore SNV calling from modest baseline levels.
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Has reproduction · 89
Statistical framework for calling allelic imbalance in high-throughput sequencing data.
PMID 39966391 · PMC11836314 · Nature communications · 2025 · 8 claims · 6 setups
MIXALIME is a versatile computational framework for calling allele-specific variants (ASVs) from diverse high-throughput omics data
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Has reproduction · 97
Determination of complete chromosomal haplotypes by bulk DNA sequencing.
PMID 33957932 · PMC8101039 · Genome biology · 2021 · 8 claims · 8 setups
A hierarchical computational strategy that first builds high-confidence local haplotype blocks from long-range/linked-read linkage and then concatenates them into whole-chromosome haplotypes using Hi-C contacts
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CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation.
PMID 11556834 · PMC2375081 · British journal of cancer · 2001 · 7 claims · 6 setups
Germ line CDKN2A mutations were found in 5 of 15 (33.3%) Italian melanoma-prone families, including one novel mutation (P48T) and three known pathogenic mutations (R24P, G101W, N71S)
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Backseat drivers take the wheel.
PMID 18068625 · PMC2705833 · Cancer cell · 2007 · 8 claims · 8 setups
Systematic resequencing combined with functional validation can distinguish rare driver FLT3 mutations from passenger mutations in AML patients negative for known activating mutations
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Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change.
PMID 17359525 · PMC1838427 · BMC molecular biology · 2007 · 8 claims · 8 setups
OPTC is a candidate gene involved in POAG pathogenesis
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Prevalence and functional analysis of sequence variants in the ATR checkpoint mediator Claspin.
PMID 19737971 · PMC2994259 · Molecular cancer research : MCR · 2009 · 8 claims · 8 setups
CLSPN is a mediator protein essential for the ATR- and CHK1-dependent checkpoint response to replicative stress or single-stranded DNA
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AutoCSA, an algorithm for high throughput DNA sequence variant detection in cancer genomes.
PMID 17485433 · PMC5947781 · Bioinformatics (Oxford, England) · 2007 · 7 claims · 2 setups
AutoCSA is an automated algorithm, extended from the CSA protocol, that detects DNA sequence variants in cancer genomes with minimal manual intervention
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Has reproduction · 96
Calibration-free NGS quantitation of mutations below 0.01% VAF.
PMID 34675197 · PMC8531361 · Nature communications · 2021 · 8 claims · 6 setups
QBDA (Quantitative Blocker Displacement Amplification) integrates UMI molecular barcoding with BDA variant enrichment to enable calibration-free VAF quantitation
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Global variation in copy number in the human genome.
PMID 17122850 · PMC2669898 · Nature · 2006 · 8 claims · 6 setups
A first-generation CNV map of the human genome was constructed from 270 HapMap individuals across four populations, identifying 1,447 CNV regions covering ~360 Mb (12%) of the genome.
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Genetic analysis of completely sequenced disease-associated MHC haplotypes identifies shuffling of segments in recent human history.
PMID 16440057 · PMC1331980 · PLoS genetics · 2006 · 7 claims · 6 setups
Complete 4.25-Mb sequence of the QBL haplotype was determined by BAC shotgun sequencing and compared with PGF (reference) and COX haplotypes
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An intergenic non-coding rRNA correlated with expression of the rRNA and frequency of an rRNA single nucleotide polymorphism in lung cancer cells.
PMID 19838300 · PMC2759515 · PloS one · 2009 · 8 claims · 7 setups
An nc-rRNA is transcribed from the intergenic spacer upstream of the rRNA transcription start site in human lung epithelial and lung cancer cells, spanning roughly -1000 to at least +203/+300.
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A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.
PMID 19763161 · PMC2730533 · PLoS genetics · 2009 · 7 claims · 8 setups
A heterozygous SCN9A missense mutation (p.N641Y) cosegregates with febrile seizures in the large K4425 family and is absent from ethnically matched population controls