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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SNP-specific extraction of haplotype-resolved targeted genomic regions.
PMID 18611953 · PMC2528194 · Nucleic acids research · 2008 · 6 claims · 4 setups
SNP-specific extraction isolates haploid genomic DNA flanking targeted SNPs by hybridizing an allele-specific oligo, enzymatically extending it with biotinylated nucleotides, and capturing the tagged allele with streptavidin-coated magnetic particles.
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A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family.
PMID 18432314 · PMC2329669 · Molecular vision · 2008 · 6 claims · 5 setups
A novel homozygous splice-site mutation, c.1495+2_1495+3insT, in the donor splice-site of TULP1 intron 14 underlies autosomal recessive early-onset RP in family TB13.
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Functional dissection of siRNA sequence by systematic DNA substitution: modified siRNA with a DNA seed arm is a powerful tool for mammalian gene silencing with significantly reduced off-target effect.
PMID 18267968 · PMC2367719 · Nucleic acids research · 2008 · 6 claims · 8 setups
The seed arm (guide strand positions 2-8), its complementary passenger-strand sequence, the 5' end of the guide strand, and the 3' overhang of the passenger strand can be simultaneously replaced with DNA without substantial loss of gene-silencing activity.
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Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia.
PMID 18237401 · PMC2276215 · Lipids in health and disease · 2008 · 8 claims · 4 setups
Two distinct heterozygous frameshift mutations in CAV1 (I134fsdelA-X137 and -88delC) were identified in patients with atypical partial lipodystrophy and severe hypertriglyceridemia
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Microdroplet-based PCR enrichment for large-scale targeted sequencing.
PMID 19881494 · PMC2779736 · Nature biotechnology · 2009 · 7 claims · 5 setups
Microdroplet PCR enables massively parallel singleplex amplification (up to ~1.5 million reactions, up to 4,000 targets) for targeted sequencing enrichment
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High-resolution, high-throughput HLA genotyping by next-generation sequencing.
PMID 19845894 · PMC4205125 · Tissue antigens · 2009 · 7 claims · 5 setups
Clonal 454 sequencing reads (>250 nt) are long enough to span HLA exons and set phase of linked polymorphisms, resolving ambiguities inherent to Sanger-based heterozygote sequencing.
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An intergenic non-coding rRNA correlated with expression of the rRNA and frequency of an rRNA single nucleotide polymorphism in lung cancer cells.
PMID 19838300 · PMC2759515 · PloS one · 2009 · 8 claims · 7 setups
An nc-rRNA is transcribed from the intergenic spacer upstream of the rRNA transcription start site in human lung epithelial and lung cancer cells, spanning roughly -1000 to at least +203/+300.
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Identification of recombinant human papillomavirus type 16 variants.
PMID 19758676 · PMC2769496 · Virology · 2009 · 8 claims · 5 setups
Concurrent infection with 8 HPV16 variants (1 prototype/European, 6 recombinant clones, plus later African-2) was detected in a single woman via PCR-based cloning and sequencing
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Mutations at codons 178, 200-129, and 232 contributed to the inherited prion diseases in Korean patients.
PMID 19698114 · PMC2749045 · BMC infectious diseases · 2009 · 8 claims · 7 setups
Three PRNP mutations—D178N, E200K, and M232R—were identified in heterozygosity in Korean probable CJD patients, marking their first report in this population.
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Target SNP selection in complex disease association studies.
PMID 15248903 · PMC487897 · BMC bioinformatics · 2004 · 7 claims · 3 setups
A computational pipeline can retrieve gene sequence, collect SNP variation data, and annotate SNPs falling in functional motifs (promoter, exon-intron structure, AU-rich elements, TF binding sites, splice sites) with expression in target tissue
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Has reproduction · 88
nf-core/isoseq: simple gene and isoform annotation with PacBio Iso-Seq long-read sequencing.
PMID 36961337 · PMC10199315 · Bioinformatics (Oxford, England) · 2023 · 7 claims · 4 setups
nf-core/isoseq is a new automated Nextflow-based pipeline that processes raw Iso-Seq subreads through to genome annotation (BED format) without requiring transcriptome assembly.
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EGenBio: a data management system for evolutionary genomics and biodiversity.
PMID 17118150 · PMC1683573 · BMC bioinformatics · 2006 · 7 claims · 7 setups
EGenBio is a web-based system for integrated management, filtering, curation, and visualization of large-scale genomic sequences, alignments, and phylogenetic trees for evolutionary genomics and biodiversity research.
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Has reproduction · 95
The archives are half-empty: an assessment of the availability of microbial community sequencing data.
PMID 32859925 · PMC7455719 · Communications biology · 2020 · 8 claims · 6 setups
A large proportion of 16S rRNA amplicon sequencing studies contain data that is not available or not reusable despite being reported as deposited.
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Has reproduction · 62
Specific Marker Gene Analysis for Primary Central Nervous System Lymphoma Based on Methylation Difference and Development of Detection Primers.
PMID 41097902 · PMC12528802 · Brain and behavior · 2025 · 7 claims · 5 setups
450K microarray analysis identified 26 overlapping differential methylation sites distinguishing PCNSL from CNS and non-CNS groups
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Has reproduction · 55
Genome-Wide Survey and Development of the First Microsatellite Markers Database (AnCorDB) in Anemone coronaria L.
PMID 35328546 · PMC8949970 · International journal of molecular sciences · 2022 · 8 claims · 8 setups
Generated the first draft genome assembly of A. coronaria by Illumina sequencing a haploid androgenetic plant
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The interleukin 12 p40 gene promoter is primed by interferon gamma in monocytic cells.
PMID 8551218 · PMC2192398 · The Journal of experimental medicine · 1996 · 8 claims · 8 setups
IFN-gamma primes phagocytic cells for LPS-induced transcription of the IL-12 p40 gene rather than directly inducing it
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BRCA1 mutations in southern England.
PMID 9649133 · PMC2150412 · British journal of cancer · 1998 · 7 claims · 4 setups
Early age of onset combined with a strong family history is the most effective selection criterion for detecting BRCA1 mutations, more so than bilaterality alone
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The homeobox gene CDX2 in colorectal carcinoma: a genetic analysis.
PMID 11161380 · PMC2363702 · British journal of cancer · 2001 · 7 claims · 7 setups
No CDX2 mutations predisposing to sporadic colorectal cancer were identified
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Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR.
PMID 15608400 · PMC2816285 · Journal of Korean medical science · 2004 · 7 claims · 6 setups
Developed a reliable quantitative real-time PCR assay using SMN1-specific primers, SYBR Green I dye, and the comparative Ct (ΔΔCt) method, normalized to albumin, to determine SMN1 copy number
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Genotyping, Orientalis-like Yersinia pestis, and plague pandemics.
PMID 15498160 · PMC3320270 · Emerging infectious diseases · 2004 · 6 claims · 6 setups
Multiple spacer typing (MST), based on intergenic spacer sequencing, differentiates the three Y. pestis biovars