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).
-
Full-text index only
Screening large-scale association study data: exploiting interactions using random forests.
PMID 15588316 · PMC545646 · BMC genetics · 2004 · 7 claims · 3 setups
Random forest importance measure significantly outperforms the Fisher Exact test as a screening tool when risk SNPs interact.
-
Has reproduction · 68
Machine learning algorithm predicts fibrosis-related blood diagnosis markers of intervertebral disc degeneration.
PMID 37915003 · PMC10619283 · BMC medical genomics · 2023 · 7 claims · 7 setups
CEP120 and SPDL1 are fibrosis-related diagnostic genes for IDD, identified via a random forest model from 29 differentially expressed fibrosis-related genes
-
Full-text index only
Imputation of missing genotypes: an empirical evaluation of IMPUTE.
PMID 19077279 · PMC2636842 · BMC genetics · 2008 · 8 claims · 7 setups
IMPUTE achieves 97% median genotype imputation accuracy in Caucasian (NNC) subjects when <10% of SNPs are untyped
-
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.
-
Has reproduction · 81
Transcriptome analysis reveals differential splicing events in IPF lung tissue.
PMID 24647608 · PMC3960165 · PloS one · 2014 · 8 claims · 6 setups
873 genes are differentially expressed in IPF lung tissue versus healthy controls at FDR<5%, with more up-regulated than down-regulated genes.
-
Full-text index only
Two novel myocilin mutations in a Chinese family with primary open-angle glaucoma.
PMID 18776955 · PMC2530518 · Molecular vision · 2008 · 7 claims · 4 setups
Two novel MYOC mutations, Pro13Leu (38C→T) and Gln337Stop (1009C del), are likely responsible for POAG pathogenesis in this pedigree
-
Full-text index only
Highly cost-efficient genome-wide association studies using DNA pools and dense SNP arrays.
PMID 18276640 · PMC2346606 · Nucleic acids research · 2008 · 8 claims · 5 setups
Illumina HumanHap300 arrays are substantially more efficient than Affymetrix Genechip HindIII arrays for DNA-pooling based GWAS
-
Full-text index only
DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinic-based population with broad ethnic diversity.
PMID 18254956 · PMC2270804 · BMC medical genetics · 2008 · 8 claims · 5 setups
Three LOXL1 SNPs previously associated with pseudoexfoliation in Nordic populations are significantly associated with pseudoexfoliation syndrome and pseudoexfoliation glaucoma in a U.S. ethnically diverse population
-
Has reproduction · 50
The molecular landscape of sepsis severity in infants: enhanced coagulation, innate immunity, and T cell repression.
PMID 38817614 · PMC11137207 · Frontiers in immunology · 2024 · 7 claims · 7 setups
Most published adult/other-cohort sepsis gene signatures have limited utility for infant sepsis; only 2 of 7 achieved >80% accuracy in infants
-
Full-text index only
Optimal step length EM algorithm (OSLEM) for the estimation of haplotype frequency and its application in lipoprotein lipase genotyping.
PMID 12529185 · PMC149347 · BMC bioinformatics · 2003 · 5 claims · 4 setups
OSLEM (Optimal Step Length EM), which approximates an optimal step length via a fixed-point search (D_N = D_{N-1} + λ(D_preN - D_{N-1})), runs about twice as fast as standard EM while producing the same haplotype frequency estimates.
-
Full-text index only
Selection of target sites for mobile DNA integration in the human genome.
PMID 17166054 · PMC1664696 · PLoS computational biology · 2006 · 8 claims · 8 setups
A comprehensive bioinformatic method was developed to annotate every base pair in the human genome for its likelihood of hosting integration by each of seven mobile DNA elements, using >200 genomic feature variables.
-
Full-text index only
Accuracy of predicting the genetic risk of disease using a genome-wide approach.
PMID 18852893 · PMC2561058 · PloS one · 2008 · 8 claims · 4 setups
Deterministic equations can predict the accuracy (r_gĝ) of genome-wide genetic risk/value prediction for continuous, dichotomous, and case-control study designs.
-
Has reproduction · 88
Severe COVID-19 Shares a Common Neutrophil Activation Signature with Other Acute Inflammatory States.
PMID 35269470 · PMC8909161 · Cells · 2022 · 7 claims · 7 setups
COVID-19 and HLH share immunological pathways, yielding 237 common up-regulated DEGs dominated by cytokine/chemokine signaling and neutrophil-mediated immune responses.
-
Has reproduction · 71
Gene Set Enrichment Analysis Reveals Individual Variability in Host Responses in Tuberculosis Patients.
PMID 34421903 · PMC8375662 · Frontiers in immunology · 2021 · 8 claims · 8 setups
TB patients show substantial individual variability in the intensity of hallmark IFN responses, as well as in complement system, metabolic, and other pathway responses.
-
Full-text index only
Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2.
PMID 19649175 · PMC2718852 · Molecular vision · 2009 · 8 claims · 6 setups
A heterozygous missense mutation c.607G>A in exon 6 of CRYBB2, causing p.Val187Met, is the probable causative mutation for congenital nuclear cataract in this family
-
Has reproduction · 85
Distinct sympathetic projections to brown fat regulate thermogenesis and glucose tolerance.
PMID 41559445 · PMC12945688 · Nature metabolism · 2026 · 8 claims · 8 setups
Distinct sympathetic neuron subpopulations in the stellate ganglion (SG) innervating iBAT parenchyma versus its vasculature mediate separable functions of the depot.
-
Full-text index only
Genomic variation in myeloma: design, content, and initial application of the Bank On A Cure SNP Panel to detect associations with progression-free survival.
PMID 18778477 · PMC2553089 · BMC medicine · 2008 · 7 claims · 7 setups
A custom BOAC SNP panel of 3404 SNPs in 983 genes was developed using the Affymetrix GeneChip Targeted Genotyping Platform, focused on non-synonymous coding SNPs and regulatory-region SNPs in candidate genes.
-
Full-text index only
Assessing the genomic evidence for conserved transcribed pseudogenes under selection.
PMID 19754956 · PMC2753554 · BMC genomics · 2009 · 8 claims · 8 setups
1750 transcribed pseudogene annotations (TPAs) were identified in the human genome, ~11.5% of all human pseudogene annotations.