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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Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy.
PMID 15084222 · PMC419352 · BMC medical genetics · 2004 · 6 claims · 5 setups
DHPLC gene scanning of the CFTR gene increases the mutation detection rate compared to standard commercial mutation panel screening alone
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Has reproduction · 78
Single duplex DNA sequencing with CODEC detects mutations with high sensitivity.
PMID 37106072 · PMC10181940 · Nature genetics · 2023 · 8 claims · 8 setups
CODEC concatenates both strands of an original DNA duplex into a single NGS read pair via an adapter quadruplex and strand-displacing extension, enabling single-duplex resolution
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Has reproduction · 87
Ultra-deep sequencing data from a liquid biopsy proficiency study demonstrating analytic validity.
PMID 35418127 · PMC9008010 · Scientific data · 2022 · 6 claims · 5 setups
This dataset is the most comprehensive public-facing dataset of ultra-deep ctDNA sequencing data generated to date
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RPS4Y gene family evolution in primates.
PMID 18477388 · PMC2397393 · BMC evolutionary biology · 2008 · 8 claims · 8 setups
The duplication event giving rise to RPS4Y2 occurred after the divergence of New World monkeys, about 35 million years ago.
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Combined subtractive cDNA cloning and array CGH: an efficient approach for identification of overexpressed genes in DNA amplicons.
PMID 15018647 · PMC365025 · BMC genomics · 2004 · 8 claims · 8 setups
Combined SSH subtractive cloning and array CGH is an efficient strategy to identify overexpressed genes located within DNA amplicons.
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Increased cyclin D1 expression can mediate BRAF inhibitor resistance in BRAF V600E-mutated melanomas.
PMID 18790768 · PMC2651569 · Molecular cancer therapeutics · 2008 · 8 claims · 6 setups
CDK4 mutations (K22Q, R24C, R24L) alone do not confer resistance to the BRAF inhibitor SB590885
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Mutational analysis of p80 coilin indicates a functional interaction between coiled bodies and the nucleolus.
PMID 7490287 · PMC2200013 · The Journal of cell biology · 1995 · 8 claims · 7 setups
p80 coilin plays an important role in subnuclear organization and there is a functional interaction between coiled bodies and nucleoli
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Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism.
PMID 19720790 · PMC2780873 · Diabetes · 2009 · 7 claims · 8 setups
INSR is disrupted by the chromosome 19 breakpoint, causing INSR haploinsufficiency (monoallelic expression) that explains the insulin resistance/dysglycemia phenotype
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Has reproduction · 67
CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissection.
PMID 41056017 · PMC12646653 · The Journal of clinical investigation · 2025 · 8 claims · 8 setups
Heterozygous CDKL1 missense variants (Cys143Arg, Ser206Leu, Thr135Met) were identified in 6 patients from 3 families with TAAD spectrum disorders
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Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.
PMID 16319823 · PMC1477589 · European journal of human genetics : EJHG · 2006 · 7 claims · 8 setups
ALX4 and MSX2 mutations contribute approximately equally to PFM/CB and cause skull defects that are usually clinically indistinguishable
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Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies.
PMID 16254605 · PMC1270012 · PLoS genetics · 2005 · 8 claims · 6 setups
Comparative net alignment of human and chimpanzee genome assemblies identifies 1,576 putative inverted regions covering more than 154 Mb of DNA
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Has reproduction · 90
Multi-omic identification of perineurial hyperplasia and lipid-associated nerve macrophages in human polyneuropathies.
PMID 40849297 · PMC12375038 · Nature communications · 2025 · 8 claims · 6 setups
A single-nucleus transcriptomic atlas of 37 human sural nerves (365,708 nuclei) defines 24 cell clusters and reveals unexpected heterogeneity of perineurial cells (periC1-3).
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A candidate metastasis-associated DNA marker for ductal mammary carcinoma.
PMID 12631399 · PMC154149 · Breast cancer research : BCR · 2003 · 8 claims · 8 setups
RDA comparing normal and metastatic ductal breast carcinoma cell DNA identified 10 unique metastasis-associated DNA sequences (MADS) apparently lost in metastatic cells
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Genome-wide microRNA profiling in human fetal nervous tissues by oligonucleotide microarray.
PMID 16983573 · PMC1705512 · Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2006 · 8 claims · 5 setups
72-83% of assayed miRNAs are expressed across human fetal organs, with G24w cerebrum showing the most miRNAs expressed
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Identification, characterization and comparative genomics of chimpanzee endogenous retroviruses.
PMID 16805923 · PMC1779541 · Genome biology · 2006 · 8 claims · 6 setups
The chimpanzee genome contains at least 42 separate families of endogenous retroviruses, 9 newly identified
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Completing the map of human genetic variation.
PMID 17495918 · PMC2685471 · Nature · 2007 · 8 claims · 5 setups
A community resource initiative will sequence fosmid and BAC clone libraries from 62 HapMap individuals to systematically discover and resolve structural genetic variants at nucleotide resolution
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Ovarian cancer biomarkers: current options and future promise.
PMID 18926090 · PMC3381792 · Journal of the National Comprehensive Cancer Network : JNCCN · 2008 · 8 claims · 8 setups
CA125 lacks the sensitivity and specificity needed for reliable early-stage ovarian cancer detection, since only ~50% of stage I/II cases show elevated levels
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Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.
PMID 20023659 · PMC2980844 · Nature genetics · 2010 · 8 claims · 8 setups
Mutations in INF2, a formin family actin-regulating protein, cause autosomal dominant focal segmental glomerulosclerosis (FSGS)
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Molecular tumor profiling: translating genomic insights into clinical advances.
PMID 15287965 · PMC507868 · Genome biology · 2004 · 8 claims · 8 setups
Gene-expression profiling can distinguish BRCA1- and BRCA2-linked breast tumors from sporadic breast tumors with similar hormone-receptor status