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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Development of an integrated genome informatics, data management and workflow infrastructure: a toolbox for the study of complex disease genetics.
PMID 15601538 · PMC3525068 · Human genomics · 2004 · 8 claims · 8 setups
An integrated system combining Ensembl, ACeDB, Gbrowse and custom relational databases provides a scalable genome informatics and workflow infrastructure for complex disease gene discovery.
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"Sequencing-grade" screening for BRCA1 variants by oligo-arrays.
PMID 18973698 · PMC2583995 · Journal of translational medicine · 2008 · 7 claims · 6 setups
An oligo-array platform can detect BRCA1 SNPs, insertions, and deletions of known and unknown variants, including in heterozygous conditions, with accuracy comparable to direct sequencing
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Effects of DNA mass on multiple displacement whole genome amplification and genotyping performance.
PMID 16168060 · PMC1249558 · BMC biotechnology · 2005 · 8 claims · 6 setups
Increased gDNA input into the MDA WGA reaction increases the proportion of double-stranded and human-specific PCR-amplifiable wgaDNA and improves genotyping performance.
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Prevalence of von Hippel-Lindau gene mutations in sporadic renal cell carcinoma: results from The Netherlands cohort study.
PMID 15932632 · PMC1177929 · BMC cancer · 2005 · 7 claims · 4 setups
VHL mutations were detected in 61% (114/187) of sporadic clear-cell RCC patients
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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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Allelic drop-out may occur with a primer binding site polymorphism for the commonly used RFLP assay for the -1131T>C polymorphism of the Apolipoprotein AV gene.
PMID 16670016 · PMC1513378 · Lipids in health and disease · 2006 · 8 claims · 6 setups
A -987C>T polymorphism located 4bp from the 3' end of the MseI RFLP forward primer causes allelic drop-out, producing incorrect -1131T>C genotypes.
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Polymorphism discovery and association analyses of the interferon genes in type 1 diabetes.
PMID 16504056 · PMC1402321 · BMC genetics · 2006 · 7 claims · 8 setups
No statistical evidence of a major association between T1D and any of the interferon or interferon-related genes tested (IFNA cluster, IFNB1, IFNW1, IFNG, ICSBP1)
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Detection of BRAF mutations in the tumour and serum of patients enrolled in the AZD6244 (ARRY-142886) advanced melanoma phase II study.
PMID 19861964 · PMC2778539 · British journal of cancer · 2009 · 7 claims · 8 setups
BRAF mutations can be detected in serum cfDNA of advanced melanoma patients using an ARMS allele-specific PCR assay
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A pre-S gene chip to detect pre-S deletions in hepatitis B virus large surface antigen as a predictive marker for hepatoma risk in chronic hepatitis B virus carriers.
PMID 19751529 · PMC2755474 · Journal of biomedical science · 2009 · 8 claims · 5 setups
Pre-S1 and pre-S2 deletion mutants of the HBV LHBS gene are highly associated with HBV-related HCC
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IRSN-23 gene diagnosis enhances breast cancer subtype classification and predicts response to neoadjuvant chemotherapy: new validation analyses.
PMID 40128415 · PMC11993443 · Breast cancer (Tokyo, Japan) · 2025 · 8 claims · 8 setups
IRSN-23 Gp-R patients have significantly higher pCR rates than Gp-NR patients without anti-HER2 therapy, across the OUH cohort and multiple independent public datasets
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Quasimonomorphic mononucleotide repeats for high-level microsatellite instability analysis.
PMID 15528790 · PMC3888729 · Disease markers · 2004 · 8 claims · 8 setups
Mononucleotide repeats are more sensitive, specific, and easier to use than dinucleotide repeats for detecting MSI-H tumors
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Multiplexed genetic analysis using an expanded genetic alphabet.
PMID 15319316 · PMC1592527 · Clinical chemistry · 2004 · 7 claims · 6 setups
MultiCode PLx is a three-step platform (PCR, target-specific extension, liquid chip decoding) performed in a single reaction vessel and completed in ~3 h
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Shotgun haplotyping: a novel method for surveying allelic sequence variation.
PMID 16221968 · PMC1253838 · Nucleic acids research · 2005 · 8 claims · 7 setups
A novel shotgun haplotyping method generates haplotypic sequences from long PCR products by shotgun sequencing both alleles concurrently and using read-pair information to separate alleles during assembly
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Direct evidence of extensive diversity of HIV-1 in Kinshasa by 1960.
PMID 18833279 · PMC3682493 · Nature · 2008 · 7 claims · 8 setups
Recovered and characterized HIV-1 sequences (DRC60) from a 1960 Bouin's-fixed paraffin-embedded lymph node biopsy from Léopoldville, Belgian Congo
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Multiple K-ras mutations in hyperplasia and carcinoma in cases of human pancreatic carcinoma.
PMID 10543256 · PMC5926143 · Japanese journal of cancer research : Gann · 1999 · 7 claims · 6 setups
K-ras codon 12 mutations are present in the majority of solid-type (85%) and ductectatic-type (73%) pancreatic carcinomas.
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HLA-A gene polymorphism defined by high-resolution sequence-based typing in 161 Northern Chinese Han people.
PMID 15629059 · PMC5172246 · Genomics, proteomics & bioinformatics · 2003 · 7 claims · 5 setups
HLA-A gene shows high polymorphism in the Northern Chinese Han population, with 74 gene types and 36 alleles detected in 161 individuals
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Toward accurate high-throughput SNP genotyping in the presence of inherited copy number variation.
PMID 17608949 · PMC1934372 · BMC genomics · 2007 · 7 claims · 5 setups
Developed a statistical model-fitting method to infer generalized (multi-allelic, copy-number-aware) genotypes from raw SNP microarray data
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Single-molecule sequencing of an individual human genome.
PMID 19668243 · PMC4117198 · Nature biotechnology · 2009 · 8 claims · 7 setups
Single-molecule sequencing without cloning, amplification or ligation can sequence an individual human genome on one instrument by a single operator in four runs
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Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P).
PMID 16887033 · PMC1559599 · BMC medical genetics · 2006 · 6 claims · 5 setups
A multiplexed suspension bead array (Luminex) assay was developed to genotype 8 Ashkenazi-prevalent disease alleles including GBA c.1448T>C