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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Has reproduction · 64
Widespread allele-specific topological domains in the human genome are not confined to imprinted gene clusters.
PMID 36869353 · PMC9983196 · Genome biology · 2023 · 8 claims · 5 setups
HiCFlow, a new bioinformatic pipeline, performs de novo haplotype assembly, phasing, and visualization of allele-specific (parental) chromatin conformation directly from Hi-C data without requiring pre-phased haplotypes.
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Haplotype analysis suggest common founders in carriers of the recurrent BRCA2 mutation, 3398delAAAAG, in French Canadian hereditary breast and/ovarian cancer families.
PMID 16539696 · PMC1464093 · BMC medical genetics · 2006 · 7 claims · 6 setups
Carriers of the 3398delAAAAG BRCA2 mutation share one of two closely related haplotypes (7-3-9-3-[3/4]-7), consistent with a common ancestral origin.
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Identification of six new polymorphisms in the human coronavirus 229E receptor gene (aminopeptidase N/CD13).
PMID 15234325 · PMC7129141 · International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases · 2004 · 7 claims · 3 setups
Human aminopeptidase N (APN/CD13/ANPEP) is the receptor for human coronavirus 229E (HCoV-229E)
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Pharmacogenomic biomarkers.
PMID 12364812 · PMC3850811 · Disease markers · 2002 · 8 claims · 8 setups
Development of a pharmacogenomic biomarker requires sequential steps: laboratory identification, retrospective confirmation in clinical samples, prospective clinical trial validation, and regulatory approval before patient stratification.
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Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?
PMID 15287992 · PMC509248 · BMC medical genetics · 2004 · 8 claims · 7 setups
A CF-causing second mutation (c.3199del6 or the novel c.3395insA) was found in cis with p.I148T in all CF patients in this cohort who carried p.I148T
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Malaria severity and human nitric oxide synthase type 2 (NOS2) promoter haplotypes.
PMID 19859740 · PMC2939908 · Human genetics · 2010 · 7 claims · 7 setups
NOS2 promoter haplotypes are not consistently associated with malaria severity or malarial anemia across three independent Tanzanian study populations