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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Isolated populations and complex disease gene identification.
PMID 18771588 · PMC2575505 · Genome biology · 2008 · 8 claims · 5 setups
Isolated/founder populations are useful for identifying genes underlying common complex diseases, not just rare monogenic diseases.
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Interpretation of genomic data: questions and answers.
PMID 18582627 · PMC2528831 · Seminars in hematology · 2008 · 8 claims · 6 setups
The main challenge in using genomic technology in cancer research is not managing the volume of data but the proper design, analysis, and reporting of studies.
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Has reproduction · 90
A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndrome.
PMID 30833571 · PMC6399342 · Nature communications · 2019 · 6 claims · 8 setups
A GWAS of 12,312 CTS cases and 389,344 controls in UK Biobank identifies 16 novel genome-wide significant susceptibility loci for CTS
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Has reproduction · 93
Genetics of circulating inflammatory proteins identifies drivers of immune-mediated disease risk and therapeutic targets.
PMID 37563310 · PMC10457199 · Nature immunology · 2023 · 8 claims · 8 setups
Genome-wide pQTL mapping of 91 inflammation-related plasma proteins in 14,824 participants identified 180 significant pQTLs (59 cis, 121 trans) across 108 genomic regions and 70 proteins
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Human epigenome project--up and running.
PMID 14691553 · PMC300691 · PLoS biology · 2003 · 7 claims · 4 setups
Epigenetic modifications (e.g., DNA methylation) rather than DNA sequence differences explain phenotypic differences between genetically identical individuals, such as monozygotic twins or inbred mice.
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Has reproduction · 59
Enhancer Reprogramming Confers Dependence on Glycolysis and IGF Signaling in KMT2D Mutant Melanoma.
PMID 33086062 · PMC7649750 · Cell reports · 2020 · 8 claims · 8 setups
KMT2D is a potent tumor suppressor in melanoma
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Has reproduction
Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.
PMID 30578418 · PMC6365102 · Nature genetics · 2019 · 8 claims · 8 setups
Discovery and replication GWAS of SBP, DBP and pulse pressure in up to 776,078 individuals identified 208 novel common blood pressure SNPs and 53 rare variants.