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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Willing to do the math: an interview with David Botstein. Interview by Jane Gitschier.
PMID 16733551 · PMC1464829 · PLoS genetics · 2006 · 8 claims · 5 setups
Highly polymorphic, multiallelic DNA markers spaced across the genome could be used to build a complete human genetic linkage map
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Molecular genetic analysis of the cytochrome P450-debrisoquine hydroxylase locus and association with cancer susceptibility.
PMID 1486838 · PMC1519624 · Environmental health perspectives · 1992 · 7 claims · 8 setups
A PCR-RFLP DNA-based assay targeting the intron 3/exon 4 G-to-A transition can identify approximately 70-80% of CYP2D6 poor metabolizers (PMs) without drug phenotyping.
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Two novel myocilin mutations in a Chinese family with primary open-angle glaucoma.
PMID 18776955 · PMC2530518 · Molecular vision · 2008 · 7 claims · 4 setups
Two novel MYOC mutations, Pro13Leu (38C→T) and Gln337Stop (1009C del), are likely responsible for POAG pathogenesis in this pedigree
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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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Pathogenic mitochondrial DNA mutations are common in the general population.
PMID 18674747 · PMC2495064 · American journal of human genetics · 2008 · 7 claims · 6 setups
At least 1 in 200 healthy humans harbors a pathogenic mtDNA mutation with potential to cause disease in offspring of female carriers
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Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2.
PMID 19649175 · PMC2718852 · Molecular vision · 2009 · 8 claims · 6 setups
A heterozygous missense mutation c.607G>A in exon 6 of CRYBB2, causing p.Val187Met, is the probable causative mutation for congenital nuclear cataract in this family
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Has reproduction
Unlocking the microbial studies through computational approaches: how far have we reached?
PMID 36920617 · PMC10016191 · Environmental science and pollution research international · 2023 · 8 claims · 8 setups
Metagenomics enables culture-independent study of microbial communities directly from their natural environments, bypassing the need for clonal isolation.