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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VIRGO: computational prediction of gene functions.
PMID 16845022 · PMC1538839 · Nucleic acids research · 2006 · 8 claims · 6 setups
VIRGO constructs a functional linkage network (FLN) from gene expression and molecular interaction data, labels genes with GO annotations, and propagates these labels to predict functions of unlabelled genes
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More breast cancer genes?
PMID 11305950 · PMC138680 · Breast cancer research : BCR · 2001 · 8 claims · 7 setups
A new high-risk breast cancer gene termed BRCAX may exist on chromosome 13q, identified via CGH and linkage analysis in Nordic families
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Large genomic rearrangements in the CFTR gene contribute to CBAVD.
PMID 17448246 · PMC1876208 · BMC medical genetics · 2007 · 7 claims · 6 setups
Large genomic rearrangements in CFTR contribute to CBAVD and should be systematically investigated alongside point mutation screening
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Adaptation to different human populations by HIV-1 revealed by codon-based analyses.
PMID 16789820 · PMC1480537 · PLoS computational biology · 2006 · 8 claims · 8 setups
Developed two fixed effects maximum likelihood methods: one to detect selection that persists in a population (internal vs. terminal branches) and one to detect differential selection on codons between two populations.
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Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin.
PMID 18834580 · PMC2668603 · American journal of ophthalmology · 2009 · 6 claims · 4 setups
A positive response of macular cysts to dorzolamide can occur across all three known mechanisms of retinoschisin dysfunction (absent secretion, decreased expression, non-functional secretion).
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Genomic structure and alterations of homeobox gene CDX2 in colorectal carcinomas.
PMID 10027310 · PMC2362430 · British journal of cancer · 1999 · 8 claims · 6 setups
CDX2 expression is decreased in colorectal carcinomas in prior studies
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PRLTS gene alterations in human prostate cancer.
PMID 9197531 · PMC5921422 · Japanese journal of cancer research : Gann · 1997 · 5 claims · 3 setups
LOH at the PRLTS gene locus is a relatively common abnormality in prostate cancer
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Has reproduction · 78
Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage.
PMID 32367296 · PMC7419486 · Journal of neurology · 2020 · 8 claims · 6 setups
Sequence variants in PCNT, RNF213 and THSD1 support a role as susceptibility factors for cerebrovascular disease (UIA/aSAH)
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BRCA1 and BRCA2 mutations in central and southern Italian patients.
PMID 11056688 · PMC13918 · Breast cancer research : BCR · 2000 · 8 claims · 4 setups
Deleterious germline BRCA1/BRCA2 mutations were detected in 11 of 136 (8%) unrelated Italian breast/ovarian cancer probands.
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High-throughput genomic technology in research and clinical management of breast cancer. Evolving landscape of genetic epidemiological studies.
PMID 16834767 · PMC1557740 · Breast cancer research : BCR · 2006 · 8 claims · 5 setups
Candidate polymorphism-based genetic epidemiological studies have yielded little success in identifying low-penetrance breast cancer susceptibility genes, largely due to poor genomic coverage and inadequate statistical power.
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Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.
PMID 17764569 · PMC2072945 · BMC medical genetics · 2007 · 7 claims · 4 setups
A nonsense mutation in CDK5RAP2 exon 4, correctly designated 246T>A (Y82X), was identified in all four affected individuals of a Pakistani family linked to MCPH3
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Current status and the future for the genetics of type I diabetes.
PMID 19956094 · PMC2805458 · Genes and immunity · 2009 · 8 claims · 7 setups
A T1DGC genome-wide association meta-analysis of >7500 cases and >9000 controls identified 42 distinct genomic locations associated with T1D at P<10^-6.
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The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.
PMID 19926015 · PMC2880864 · Journal of the American College of Cardiology · 2009 · 8 claims · 6 setups
Comprehensive open-reading-frame RYR2 mutational analysis reveals possible CPVT1 mutations located outside the three canonical hot-spot domains
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Genome sequence, comparative analysis, and population genetics of the domestic horse.
PMID 19892987 · PMC3785132 · Science (New York, N.Y.) · 2009 · 8 claims · 7 setups
Produced a high-quality draft genome assembly of the domestic horse (EquCab2.0)
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Medical sequencing of candidate genes for nonsyndromic cleft lip and palate.
PMID 16327884 · PMC1298935 · PLoS genetics · 2005 · 8 claims · 8 setups
Point mutations in FOXE1, GLI2, JAG2, LHX8, MSX1, MSX2, SATB2, SKI, SPRY2, and TBX10 may be rare causes of isolated CL/P
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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.
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A novel mutation and phenotypes in phosphodiesterase 6 deficiency.
PMID 18723146 · PMC2593460 · American journal of ophthalmology · 2008 · 8 claims · 8 setups
A high-throughput arRP genotyping microarray (APEX technology) combined with sequencing can efficiently identify disease-associated alleles across 17 arRP genes in RP patients
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Population genomics: diversity and virulence in the Neisseria.
PMID 18822386 · PMC2612085 · Current opinion in microbiology · 2008 · 8 claims · 8 setups
Horizontal genetic exchange (recombination) plays a central role in shaping bacterial speciation and population structure in Neisseria
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NEIBank: genomics and bioinformatics resources for vision research.
PMID 18648525 · PMC2480482 · Molecular vision · 2008 · 8 claims · 7 setups
NEIBank is an integrated genomics and bioinformatics resource for vision research, combining EST/cDNA clone data, SAGE expression data, and eye disease gene databases.