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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Genomics--from Neanderthals to high-throughput sequencing.
PMID 16934106 · PMC1779599 · Genome biology · 2006 · 8 claims · 8 setups
Next-generation sequencing platforms (GS20/454 and Solexa) can deliver the throughput and cost reductions needed for population-scale and medical resequencing.
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Two novel missense mutations in the myostatin gene identified in Japanese patients with Duchenne muscular dystrophy.
PMID 17428346 · PMC1855920 · BMC medical genetics · 2007 · 7 claims · 5 setups
Two novel missense mutations in the myostatin gene (p.95D>H and p.156L>I) were identified in Japanese DMD patients
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A novel Twinkle (PEO1) gene mutation in a Chinese family with adPEO.
PMID 18989381 · PMC2579934 · Molecular vision · 2008 · 8 claims · 5 setups
Two-point linkage analysis maps this Chinese adPEO family to the PEO1 (Twinkle) locus on chromosome 10q23.3-24.3, with the other three candidate genes excluded.
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Has reproduction · 66
Prime editing in mice reveals the essentiality of a single base in driving tissue-specific gene expression.
PMID 33722289 · PMC7962346 · Genome biology · 2021 · 6 claims · 7 setups
A PE2-mediated single-base (C>G) substitution in the Tspan2 CArG box causes cell-specific loss of Tspan2 mRNA in aorta and bladder but not heart or brain, mirroring HDR-mediated 3-bp substitution.
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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