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).
-
Has reproduction · 84
Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype.
PMID 35296718 · PMC8927422 · Scientific reports · 2022 · 8 claims · 8 setups
Four FBN1-negative patients from three families with a MASS-like phenotype carry likely pathogenic or uncertain-significance missense variants in the propeptide-coding regions of COL2A1
-
Full-text index only
NeMeSys: a biological resource for narrowing the gap between sequence and function in the human pathogen Neisseria meningitidis.
PMID 19818133 · PMC2784325 · Genome biology · 2009 · 8 claims · 5 setups
Determined and manually annotated the complete genome sequence of N. meningitidis clinical isolate strain 8013
-
Full-text index only
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.
-
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.
-
Full-text index only
Patterns of somatic mutation in human cancer genomes.
PMID 17344846 · PMC2712719 · Nature · 2007 · 8 claims · 5 setups
Systematic resequencing of a large gene family (protein kinases) across diverse cancers reveals a larger repertoire of cancer genes than previously anticipated
-
Full-text index only
Variants in the estrogen receptor alpha gene and its mRNA contribute to risk for schizophrenia.
PMID 18424448 · PMC2465798 · Human molecular genetics · 2008 · 8 claims · 8 setups
Genotype CC (rs2234693/PvuII) and C-allele-containing haplotypes in ESR1 intron 1 are more frequent in African American schizophrenics than controls
-
Full-text index only
An Asilomar moment.
PMID 12372138 · PMC244904 · Genome biology · 2002 · 7 claims · 3 setups
The current push to restrict genomics/pathogen research funding and publication due to bioterrorism fears parallels the 1975 Asilomar Conference response to recombinant DNA risks.
-
Full-text index only
Proteomic solutions for analytical challenges associated with alcohol research.
PMID 23584870 · PMC3860482 · Alcohol research & health : the journal of the National Institute on Alcohol Abuse and Alcoholism · 2008 · 7 claims · 4 setups
Protein-level meta-analyses analogous to the transcriptome meta-analysis by Mulligan et al. (2006) are not yet possible because proteins lack a uniform sample preparation/analysis method and span up to 8 orders of magnitude in abundance.
-
Full-text index only
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
-
Full-text index only
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
-
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.
-
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.
-
Full-text index only
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.
-
Full-text index only
Gene function in the mammalian genome, courtesy of the mouse.
PMID 12537544 · PMC151280 · Genome biology · 2003 · 8 claims · 8 setups
Mosaicism of Mus musculus domesticus and Mus musculus musculus haplotypes exists across the inbred laboratory mouse genome, and genome-wide haplotype mapping can enhance positional cloning
-
Has reproduction · 73
Integrated multiomic analysis reveals disulfidptosis subtypes in glioblastoma: implications for immunotherapy, targeted therapy, and chemotherapy.
PMID 38504986 · PMC10950096 · Frontiers in immunology · 2024 · 8 claims · 8 setups
Consensus clustering on 32 disulfidptosis-associated genes stratifies GBM patients into two subtypes, DRGcluster A and B, with distinct survival outcomes.
-
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
-
Full-text index only
In silico discovery of gene-coding variants in murine quantitative trait loci using strain-specific genome sequence databases.
PMID 12537567 · PMC151180 · Genome biology · 2002 · 6 claims · 4 setups
Strain-specific mouse genome sequence databases can be used in a high-throughput in silico pipeline to discover gene-coding variants within murine QTLs, without de novo sequencing.
-
Full-text index only
Comparative genomics comes of age.
PMID 12186641 · PMC139393 · Genome biology · 2002 · 8 claims · 8 setups
Only about 50% of conserved sequence elements (exons+introns) in orthologous human-mouse genes correspond to exons, implying substantial non-exonic conservation
-
Full-text index only
New perspectives on an old disease: proteomics in cancer research.
PMID 17472735 · PMC1895992 · Genome biology · 2007 · 8 claims · 8 setups
The HUPO Plasma Proteome Project has catalogued over 3,020 non-redundant gene products (>7,000 proteins/isoforms) in human plasma, many originating from tissues/organs rather than being plasma-intrinsic.
-
Full-text index only
Better smelling through genetics: mammalian odor perception.
PMID 18938244 · PMC2590501 · Current opinion in neurobiology · 2008 · 8 claims · 8 setups
Odorant receptor (OR) gene repertoire size and pseudogene fraction vary dramatically across mammalian species