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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Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia.
PMID 19112531 · PMC2610290 · Molecular vision · 2008 · 8 claims · 4 setups
A novel STRA6 missense variant (p.G217E, exon 8) and a novel STRA6 nonsense variant (p.Q592X, exon 18) were identified in one A/M subject and absent from 89 controls, implicating STRA6 in this subject's A/M phenotype.
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Has reproduction · 96
Calibration-free NGS quantitation of mutations below 0.01% VAF.
PMID 34675197 · PMC8531361 · Nature communications · 2021 · 8 claims · 6 setups
QBDA (Quantitative Blocker Displacement Amplification) integrates UMI molecular barcoding with BDA variant enrichment to enable calibration-free VAF quantitation
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DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.
PMID 18987736 · PMC2603574 · Nature · 2008 · 8 claims · 8 setups
Whole genome sequencing can identify unbiased, novel somatic mutations in a cytogenetically normal AML genome that would not have been found by candidate-gene resequencing.
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Has reproduction · 38
RNA-Seq transcriptome profiling of upland cotton (Gossypium hirsutum L.) root tissue under water-deficit stress.
PMID 24324815 · PMC3855774 · PloS one · 2013 · 8 claims · 8 setups
A total of 1,530 transcripts were differentially expressed between well-watered and water-deficit stressed field-grown upland cotton root tissues (913 up-regulated, 617 down-regulated).
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The pseudo-mitochondrial genome influences mistakes in heteroplasmy interpretation.
PMID 16859552 · PMC1538596 · BMC genomics · 2006 · 7 claims · 7 setups
Numts co-amplified with mtDNA during PCR generate false heteroplasmic signals at specific nucleotide positions.