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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How to find soluble proteins: a comprehensive analysis of alpha/beta hydrolases for recombinant expression in E. coli.
PMID 15804363 · PMC1079826 · BMC genomics · 2005 · 7 claims · 7 setups
Predicted solubility in E. coli (via CV-CV') depends on hydrolase size, phylogenetic origin, homologous family, and superfamily
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Eight previously unidentified mutations found in the OA1 ocular albinism gene.
PMID 16646960 · PMC1468396 · BMC medical genetics · 2006 · 7 claims · 5 setups
Sequencing of the nine OA1 exons in 72 individuals identified ten different mutations across seven unrelated families and three sporadic cases.
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FGF: a web tool for Fishing Gene Family in a whole genome database.
PMID 17584790 · PMC1933194 · Nucleic acids research · 2007 · 6 claims · 3 setups
FGF efficiently searches and identifies gene families in whole-genome databases and outputs visual phylogenetic trees annotated with gene structure, chromosome position, duplication fate, and selective pressure (Ka/Ks)
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Cardiovascular genomics, personalized medicine, and the National Heart, Lung, and Blood Institute: part I: the beginning of an era.
PMID 20031542 · PMC3097376 · Circulation. Cardiovascular genetics · 2008 · 7 claims · 8 setups
Rare Mendelian mutations (e.g., in sarcomere genes, ion channels, FBN1, LMNA) cause specific rare cardiovascular conditions (hypertrophic/dilated cardiomyopathy, long-QT syndrome, thoracic aortic aneurysm, progeria) but explain little of common CVD risk.
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Predicting survival outcomes using subsets of significant genes in prognostic marker studies with microarrays.
PMID 16549007 · PMC1544357 · BMC bioinformatics · 2006 · 7 claims · 2 setups
A methodology combining Cox proportional hazards models with a compound covariate, cross-validated log partial likelihood (ACVL) for predictive accuracy, and permutation-based significance testing can identify an optimal subset of significant genes for survival prediction
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Prediction and assessment of splicing alterations: implications for clinical testing.
PMID 18951448 · PMC2832470 · Human mutation · 2008 · 8 claims · 5 setups
Bioinformatic prediction alone is insufficient; in vitro analysis is needed to confirm or establish splicing aberrations for clinical variant classification
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No germline mutations in supposed tumour suppressor genes SAFB1 and SAFB2 in familial breast cancer with linkage to 19p.
PMID 19077293 · PMC2635354 · BMC medical genetics · 2008 · 8 claims · 5 setups
SAFB1 and SAFB2 had previously been proposed as tumour suppressor genes in breast cancer based on functional properties (ERα repression) and loss of heterozygosity in tumours
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Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer.
PMID 18627636 · PMC2575532 · Breast cancer research : BCR · 2008 · 8 claims · 5 setups
27 deleterious BRCA1/BRCA2 mutations were detected in 28 breast cancer patients (14 in BRCA1, 13 in BRCA2) among 187 tested
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Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.
PMID 18489799 · PMC2413254 · BMC cancer · 2008 · 8 claims · 6 setups
Pathogenic BRCA1/BRCA2 mutations were identified in 294 of 1,010 (29.1%) unrelated high-risk Czech probands
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Institutional Profile: The University of California Pharmacogenomics Center: at the interface of genomics, biological mechanisms and drug therapy.
PMID 19842929 · PMC2923222 · Pharmacogenomics · 2009 · 8 claims · 8 setups
Approximately 15-20% of nonsynonymous variants in membrane transporters exhibit reduced function
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SNP-RFLPing: restriction enzyme mining for SNPs in genomes.
PMID 16503968 · PMC1386656 · BMC genomics · 2006 · 8 claims · 2 setups
SNP-RFLPing accepts three flexible input types (dbSNP rs#/ss# IDs, HUGO gene name/Entrez gene ID, or free-form SNP-in-sequence including IUPAC or [dNTP1/dNTP2] formats) for human, rat, and mouse genomes
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Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.
PMID 16595074 · PMC3500179 · Human genomics · 2006 · 8 claims · 7 setups
50 novel α-Gal A mutations were identified in 49 of 66 unrelated families with classic Fabry disease.
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Biologic diversity of polyomavirus BK genomic sequences: Implications for molecular diagnostic laboratories.
PMID 18712842 · PMC2906129 · Journal of medical virology · 2008 · 8 claims · 5 setups
Coverage of naturally occurring BKV strains varies substantially among current PCR diagnostic assays due to primer/probe mismatches
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The mitochondrial genome, a growing interest inside an organelle.
PMID 18488415 · PMC2526360 · International journal of nanomedicine · 2008 · 8 claims · 8 setups
mtDNA mutations are causally linked to a wide range of mitochondrial diseases, aging, and chronic degenerative diseases
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Has reproduction · 65
FusionQ: a novel approach for gene fusion detection and quantification from paired-end RNA-Seq.
PMID 23768108 · PMC3691734 · BMC bioinformatics · 2013 · 8 claims · 8 setups
FusionQ is a novel tool that detects gene fusions, constructs chimerical transcript structures, and estimates their abundances from paired-end RNA-Seq data.
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Has reproduction · 95
Mouse-Geneformer: A deep learning model for mouse single-cell transcriptome and its cross-species utility.
PMID 40106407 · PMC11964219 · PLoS genetics · 2025 · 7 claims · 6 setups
Mouse-Geneformer, a Transformer Encoder model pre-trained via masked-token self-supervised learning on mouse-Genecorpus-20M, was successfully constructed following the original human Geneformer architecture.
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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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Interactome networks: the state of the science.
PMID 16515723 · PMC1431712 · Genome biology · 2006 · 8 claims · 8 setups
Spastin interacts with CHMP1B, an ESCRT-III-associated protein, supporting a role for spastin in intracellular membrane trafficking relevant to hereditary spastic paraplegia
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Viroporin potential of the lentivirus lytic peptide (LLP) domains of the HIV-1 gp41 protein.
PMID 18028545 · PMC2211469 · Virology journal · 2007 · 8 claims · 4 setups
Synthetic peptides corresponding to LLP-1, LLP-2, and LLP-3 domains partition into POPC:POPG lipid membranes and adopt amphipathic α-helical secondary structure
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Indirect genomic effects on survival from gene expression data.
PMID 18358079 · PMC2397510 · Genome biology · 2008 · 7 claims · 6 setups
A novel methodology (dynamic path analysis combined with additive hazard survival regression) can detect and quantify indirect effects of gene expression on survival mediated through transcription factor target genes.