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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Expanding CEP290 mutational spectrum in ciliopathies.
PMID 19764032 · PMC4340070 · American journal of medical genetics. Part A · 2009 · 7 claims · 4 setups
A large heterozygous genomic deletion spanning the CEP290 C-terminus (exons 42-54) was identified in a JSRD-COR patient previously known to carry only one CEP290 point mutation.
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A genome-wide screen for copy number alterations in Aicardi syndrome.
PMID 19760649 · PMC3640635 · American journal of medical genetics. Part A · 2009 · 7 claims · 4 setups
Aicardi syndrome is thought to result from heterozygous defects in an essential X-linked gene, or from a sex-limited autosomal gene defect, due to its occurrence almost exclusively in females and in 47,XXY males.
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Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.
PMID 19753312 · PMC2742639 · Molecular vision · 2009 · 7 claims · 4 setups
Mutations responsible for over 30% of LCA cases in northern America were found in only 2.6% of LCA cases in a southern Indian cohort.
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Helicobacter Pylori's plasticity zones are novel transposable elements.
PMID 19727398 · PMC2731543 · PloS one · 2009 · 8 claims · 8 setups
Plasticity zones are a novel class of transposable elements (named TnPZs), flanked by direct repeats of 5'AAGAATG and inserted at multiple discrete chromosomal sites
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Unique clinicopathologic features characterize ALK-rearranged lung adenocarcinoma in the western population.
PMID 19671850 · PMC2865649 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2009 · 8 claims · 6 setups
20 of 358 (5.6%) lung adenocarcinomas from Western institutions harbored ALK rearrangements
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Genomic and mutational profiling to assess clonal relationships between multiple non-small cell lung cancers.
PMID 19671847 · PMC2892178 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2009 · 8 claims · 5 setups
Genomic profiling by aCGH can distinguish clonal tumors from independent primaries with high confidence by identifying matching versus non-matching regions of allelic gain/loss.
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Recurring mutations found by sequencing an acute myeloid leukemia genome.
PMID 19657110 · PMC3201812 · The New England journal of medicine · 2009 · 8 claims · 8 setups
Deep paired tumor/normal whole-genome sequencing of a cytogenetically normal AML-M1 genome identified 12 somatic coding (tier 1) mutations and 52 somatic tier 2 (conserved/regulatory) mutations.
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Sequence variation of PfEMP1-DBLalpha in association with rosette formation in Plasmodium falciparum isolates causing severe and uncomplicated malaria.
PMID 19650937 · PMC3224928 · Malaria journal · 2009 · 8 claims · 5 setups
Sequence group 1 (mainly from uncomplicated malaria) is significantly different in distribution from sequence group 3 (mainly from severe malaria)
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MrHAMER yields highly accurate single molecule viral sequences enabling analysis of intra-host evolution.
PMID 33849057 · PMC8266615 · Nucleic acids research · 2021 · 8 claims · 7 setups
MrHAMER yields >1000s of viral genomes per sample at 99.9% accuracy
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Microbial community dynamics over large spatial and environmental gradients in a subtropical ocean basin.
PMID 41568968 · PMC12915303 · Applied and environmental microbiology · 2026 · 8 claims · 7 setups
Cluster analysis of 18S (and similarly 16S) community data revealed three clusters corresponding to depth zones: photic zone, deep chlorophyll maximum (DCM), and aphotic zone
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Expression of ultralong complementarity determining region 3 and development of IgM and IgG B cell receptor repertoires in Holstein heifer calves.
PMID 41588676 · PMC12857222 · ImmunoHorizons · 2026 · 7 claims · 6 setups
The percentage of productive IgM sequences with ultralong CDR3 significantly increases between day 90 and ~day 285 of life
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Parasitic connections: a patescibacterial epibiont, its methylotrophic gammaproteobacterial host, and their phages.
PMID 41805398 · PMC13059738 · mBio · 2026 · 8 claims · 7 setups
Strigamonas methylophilicida sp. nov. is a new patescibacterial genus and species within the family Absconditicoccaceae
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Single-cell sequencing reveals unexpected genetic diversity among Bodo spp. flagellates and their bacterial endosymbionts.
PMID 41848149 · PMC12999062 · Microbial genomics · 2026 · 8 claims · 8 setups
Seven single-cell genomes assembled from uncultured environmental Bodo cells represent three potentially novel Bodo species
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Analysis of the p53 gene by PCR-SSCP in ten cases of Wilms' tumor.
PMID 10772697 · PMC11166235 · Sao Paulo medical journal = Revista paulista de medicina · 2000 · 7 claims · 3 setups
Point mutations of the p53 gene (exons 5-9) were not detected in any of the 10 Wilms' tumor samples studied
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Colorectal cancer genomics: evidence for multiple genotypes which influence survival.
PMID 11720434 · PMC2363933 · British journal of cancer · 2001 · 6 claims · 3 setups
Genetic grade (total number of CGH-detected gains+losses) varies greatly among Dukes' C CRC tumours and shows a multimodal (non-normal) distribution
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Detection of an Ala601Thr mutation of plasminogen gene in 3 out of 36 Korean patients with deep vein thrombosis.
PMID 12692411 · PMC3055032 · Journal of Korean medical science · 2003 · 7 claims · 3 setups
Dysplasminogenemia was identified in 3 of 36 (8.3%) unrelated Korean DVT patients.
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PrimerSeq: Design and visualization of RT-PCR primers for alternative splicing using RNA-seq data.
PMID 24747190 · PMC4411361 · Genomics, proteomics & bioinformatics · 2014 · 8 claims · 3 setups
PrimerSeq is a user-friendly stand-alone software with a GUI for systematic design and visualization of RT-PCR primers for alternative splicing analysis using user-provided RNA-seq data.
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SiDCoN: a tool to aid scoring of DNA copy number changes in SNP chip data.
PMID 17971856 · PMC2034603 · PloS one · 2007 · 8 claims · 3 setups
SiDCoN is a spreadsheet-based application that simulates Ballele and logR plots for all known types of DNA copy number change, with or without stromal contamination, for up to 5000 SNP data points and up to 3 combined aberrations
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Functional copy-number alterations in cancer.
PMID 18784837 · PMC2527508 · PloS one · 2008 · 8 claims · 3 setups
RAE is a comprehensive computational framework that robustly maps chromosomal alterations in tumor samples and statistically assesses their functional importance in cancer.
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High-resolution array copy number analyses for detection of deletion, gain, amplification and copy-neutral LOH in primary neuroblastoma tumors: four cases of homozygous deletions of the CDKN2A gene.
PMID 18664255 · PMC2527340 · BMC genomics · 2008 · 8 claims · 3 setups
Affymetrix 50K/250K SNP arrays with CNAG3.0 software provide high-resolution (10-12kb) copy number and allele-specific information suitable for characterizing chromosomal rearrangements in neuroblastoma tumors