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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Targeted capture and massively parallel sequencing of 12 human exomes.
PMID 19684571 · PMC2844771 · Nature · 2009 · 8 claims · 8 setups
Targeted exome capture combined with massively parallel sequencing sensitively and specifically identifies rare and common variants across >300 Mb of coding sequence
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Comprehensive resequence analysis of a 97 kb region of chromosome 10q11.2 containing the MSMB gene associated with prostate cancer.
PMID 19644707 · PMC2778717 · Human genetics · 2009 · 7 claims · 5 setups
Resequencing of the 97-kb 10q11.2 region identified 241 novel polymorphisms not previously reported in dbSNP
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A bioinformatics pipeline for a tick pathogen surveillance multiplex amplicon sequencing assay.
PMID 37247570 · PMC10878300 · Ticks and tick-borne diseases · 2023 · 7 claims · 3 setups
The MPAS pipeline is a portable, reproducible Nextflow-based bioinformatics pipeline that identifies and summarizes amplicon sequences produced by the MPAS assay.
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The continuing search for cancer-causing somatic mutations.
PMID 17319975 · PMC1851399 · Breast cancer research : BCR · 2007 · 8 claims · 3 setups
A screen of 91 breast cancers uncovered 87 somatic variants spread across 16 of the 21 genes examined
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Frequent detection of familial hypercholesterolemia mutations in familial combined hyperlipidemia.
PMID 19007591 · PMC3423908 · Journal of the American College of Cardiology · 2008 · 8 claims · 3 setups
A substantial proportion (20%) of patients with a clinical diagnosis of FCHL carry functional LDLR mutations typically associated with FH
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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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Targeted next-generation sequencing of a cancer transcriptome enhances detection of sequence variants and novel fusion transcripts.
PMID 19835606 · PMC2784330 · Genome biology · 2009 · 7 claims · 2 setups
Hybrid selection of cDNA dramatically increases the specificity of sequencing reads mapping to targeted cancer-related transcripts.
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Has reproduction · 93
Histone deacetylase SIRT6 regulates tryptophan catabolism and prevents metabolite imbalance associated with neurodegeneration.
PMID 41345108 · PMC12789597 · Nature communications · 2025 · 7 claims · 8 setups
SIRT6 is an evolutionarily conserved regulator of tryptophan catabolism that balances tryptophan usage between the kynurenine and serotonin/melatonin pathways
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An integrated genomic analysis of human glioblastoma multiforme.
PMID 18772396 · PMC2820389 · Science (New York, N.Y.) · 2008 · 8 claims · 7 setups
IDH1 is recurrently mutated at its active site (R132) in 12% of GBM patients, a previously unrecognized alteration in GBM.
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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 · 78
GenTB: A user-friendly genome-based predictor for tuberculosis resistance powered by machine learning.
PMID 34461978 · PMC8407037 · Genome medicine · 2021 · 8 claims · 6 setups
GenTB is a free, open, web-based application offering two ML predictors (Random Forest and WDNN) that predict resistance to 13 and 10 anti-TB drugs, respectively.
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Has reproduction · 51
Evaluation of the Available Variant Calling Tools for Oxford Nanopore Sequencing in Breast Cancer.
PMID 36140751 · PMC9498802 · Genes · 2022 · 7 claims · 6 setups
Clair3 and Human-SNP-wf (which incorporates Clair3) achieved the highest performance among the six variant callers tested.
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Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
PMID 18193044 · PMC2682493 · Nature genetics · 2008 · 8 claims · 7 setups
GWAS plus targeted replication identified 18 loci reproducibly associated with LDL cholesterol, HDL cholesterol, and/or triglycerides, six of which are newly identified
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Next-generation sequencing.
PMID 20030863 · PMC2797692 · Breast cancer research : BCR · 2009 · 8 claims · 7 setups
Massively parallel sequencing can simultaneously capture base-pair mutations, copy number aberrations and somatic rearrangements of a cancer genome in a single experiment
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Exome sequencing of a multigenerational human pedigree.
PMID 20011588 · PMC2788131 · PloS one · 2009 · 8 claims · 6 setups
Microarray-based exome capture combined with 454 GS FLX NGS is an efficient and reliable method to enrich for chromosomal regions of interest, validated on eight individuals from a three-generation pedigree
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Glioblastoma subclasses can be defined by activity among signal transduction pathways and associated genomic alterations.
PMID 19915670 · PMC2771920 · PloS one · 2009 · 8 claims · 6 setups
Proteomic analysis of glioma samples reveals three signaling subclasses of GBM associated with predominant EGFR activation, PDGFR activation, or loss of NF1
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Exome sequencing identifies the cause of a mendelian disorder.
PMID 19915526 · PMC2847889 · Nature genetics · 2010 · 8 claims · 7 setups
Exome sequencing of a small number of unrelated affected individuals, combined with filtering against public SNP databases and HapMap exomes, is sufficient to identify the causal gene for a monogenic disorder of unknown etiology.
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Metabolomics applied to diabetes research: moving from information to knowledge.
PMID 19875619 · PMC2768174 · Diabetes · 2009 · 8 claims · 7 setups
Metabolomics measures chemical phenotypes that are the net result of genomic, transcriptomic, and proteomic variability, providing the most integrated profile of biological status
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Has reproduction
Predicting favorable landing pads for targeted integrations in Chinese hamster ovary cell lines by learning stability characteristics from random transgene integrations.
PMID 33304461 · PMC7710658 · Computational and structural biotechnology journal · 2020 · 7 claims · 6 setups
Expression stability in CHO cell lines is controlled at three levels: choice of integration site, integrity/concatemerization pattern of the transgene, and stress-related cellular processes.
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Gene expression and isoform variation analysis using Affymetrix Exon Arrays.
PMID 18990248 · PMC2585104 · BMC genomics · 2008 · 8 claims · 7 setups
The Exon Array performs comparably to 3'-targeted platforms (Illumina, U133) at the gene expression level, though interplatform correlation is slightly lower than between the two 3' platforms.