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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INI1 mutations in meningiomas at a potential hotspot in exon 9.
PMID 11161377 · PMC2363707 · British journal of cancer · 2001 · 6 claims · 5 setups
A recurrent somatic INI1 mutation (G1130A, Arg377His) occurs at a hotspot in exon 9 in a subset of meningiomas.
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Molecular variants of the ATM gene in Hodgkin's disease in children.
PMID 14735203 · PMC2409549 · British journal of cancer · 2004 · 8 claims · 4 setups
Missense variants of the ATM gene occur in childhood Hodgkin lymphoma but at low frequency (9%), and thus do not play a major role in oncogenesis of the disease
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Has reproduction · 79
Contribution of retrotransposition to developmental disorders.
PMID 31604926 · PMC6789007 · Nature communications · 2019 · 8 claims · 6 setups
De novo retrotransposition events cause a small but detectable fraction of severe developmental disorders, with 4 of 9 de novo MEIs deemed likely causative (~0.04%).
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Bias of selection on human copy-number variants.
PMID 16482228 · PMC1366494 · PLoS genetics · 2006 · 8 claims · 8 setups
Human CNVs are significantly overrepresented near telomeres and centromeres and enriched in simple tandem repeats relative to the genome as a whole
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Coffee, caffeine-related genes, and Parkinson's disease: a case-control study.
PMID 18759349 · PMC4554698 · Movement disorders : official journal of the Movement Disorder Society · 2008 · 8 claims · 5 setups
Coffee drinking (ever/never or by cups/day) was not associated with PD susceptibility
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The genomic distribution of intraspecific and interspecific sequence divergence of human segmental duplications relative to human/chimpanzee chromosomal rearrangements.
PMID 18699995 · PMC2542386 · BMC genomics · 2008 · 8 claims · 5 setups
Some relatively recent (young) SDs accumulate in regions homologous to chromosomal inversions that occurred in the sister lineage
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Recurring genomic breaks in independent lineages support genomic fragility.
PMID 17090315 · PMC1636669 · BMC evolutionary biology · 2006 · 6 claims · 6 setups
The propensity of a chromosomal region to break is significantly correlated among independent lineages, even after accounting for covariates like region length and functional class.
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Bases and spaces: resources on the web for accessing the draft human genome.
PMID 11178254 · PMC138875 · Genome biology · 2000 · 8 claims · 8 setups
By combining currently available genomic databases and mapping resources (GenBank/Entrez, UniGene, RH maps, BAC fingerprint maps, Ensembl, NIX), it is possible to devise strategies that fully exploit the fragmentary draft human genome sequence.