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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SeqDoC: rapid SNP and mutation detection by direct comparison of DNA sequence chromatograms.
PMID 15927052 · PMC1156871 · BMC bioinformatics · 2005 · 8 claims · 6 setups
SeqDoC generates a subtracted difference trace between a reference and test chromatogram that highlights single base changes
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COMUS: Clinician-Oriented locus-specific MUtation detection and deposition System.
PMID 19958500 · PMC2788389 · BMC genomics · 2009 · 8 claims · 6 setups
COMUS is a bioinformatics system for detecting and depositing new mutations from patient DNA with a clinician-friendly interface
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Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing.
PMID 11710958 · PMC59832 · BMC genetics · 2001 · 7 claims · 6 setups
DHPLC screening combined with direct sequencing detects likely disease-causative point mutations in the dystrophin gene missed by multiplexed PCR deletion/duplication testing
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Ankyrin-linked hereditary spherocytosis in an African-American kindred.
PMID 18704959 · PMC11304496 · American journal of hematology · 2008 · 6 claims · 7 setups
A novel heterozygous initiator methionine mutation (ATG→ATA, Met1Ile), termed ankyrin New Haven, was identified in exon 1 of the ankyrin-1 gene as the cause of HS in this kindred.
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Developmental and genetic regulation of human surfactant protein B in vivo.
PMID 18776725 · PMC2765709 · Neonatology · 2009 · 8 claims · 7 setups
Pro-SP-B peptides are more common in developmentally less mature humans (amniotic fluid, neonatal tracheal aspirates) than in adults
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Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM.
PMID 18565236 · PMC2442058 · BMC medical genetics · 2008 · 7 claims · 6 setups
The combined LD-PCR/DHPLC diagnostic strategy achieved a 100% mutation detection rate across 122 Taiwanese hemophilia A families.