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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Ordered subsets linkage analysis of antisocial behavior in substance use disorder among participants in the Collaborative Study on the Genetics of Alcoholism.
PMID 18496835 · PMC4248599 · American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2008 · 8 claims · 5 setups
Prior to OSA, modest evidence for linkage to SUD was found on chromosomes 8 and 17.
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Mutation patterns of mtDNA: empirical inferences for the coding region.
PMID 18518963 · PMC2438339 · BMC evolutionary biology · 2008 · 5 claims · 3 setups
Heteroplasmy was detected in 6.5% (3/46) of Azorean families analyzed, all caused by new point mutations with no insertions/deletions.
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Topological approximate Bayesian computation for parameter inference of an angiogenesis model.
PMID 35191485 · PMC9048691 · Bioinformatics (Oxford, England) · 2022 · 7 claims · 3 setups
TDA summary statistics can be combined with ABC to infer parameters (ρ, χ) of the Anderson–Chaplain angiogenesis model
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Target SNP selection in complex disease association studies.
PMID 15248903 · PMC487897 · BMC bioinformatics · 2004 · 7 claims · 3 setups
A computational pipeline can retrieve gene sequence, collect SNP variation data, and annotate SNPs falling in functional motifs (promoter, exon-intron structure, AU-rich elements, TF binding sites, splice sites) with expression in target tissue
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PedGenie: an analysis approach for genetic association testing in extended pedigrees and genealogies of arbitrary size.
PMID 16620382 · PMC1459209 · BMC bioinformatics · 2006 · 7 claims · 3 setups
PedGenie is a valid, flexible statistical tool for genetic association analysis in pedigrees of arbitrary size and structure using Monte Carlo significance testing
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DiagHunter and GenoPix2D: programs for genomic comparisons, large-scale homology discovery and visualization.
PMID 14519203 · PMC328457 · Genome biology · 2003 · 7 claims · 5 setups
DiagHunter identifies large-scale synteny blocks within or between genomes efficiently despite background noise and genomic discontinuities, without performing sequence alignment
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Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis.
PMID 18053270 · PMC2222245 · BMC medical genetics · 2007 · 8 claims · 6 setups
PITX1 polymorphisms and haplotypes are significantly associated with autism
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Ultraconserved coding regions outside the homeobox of mammalian Hox genes.
PMID 18816392 · PMC2566984 · BMC evolutionary biology · 2008 · 7 claims · 7 setups
Ultraconserved coding regions (UCRs, ≥120 nt with no synonymous or nonsynonymous substitutions) exist outside the homeobox in mammalian Hox genes
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Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes.
PMID 18648522 · PMC2480479 · Molecular vision · 2008 · 8 claims · 4 setups
A rare CHX10 missense variant (c.728G>A, Gly243Asp) was identified in one PACG patient and absent in 215 controls, and is a possible disease-causing variant
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All systems GO for understanding mouse gene function.
PMID 15610553 · PMC549721 · Journal of biology · 2004 · 7 claims · 4 setups
Quantitative, multivariate cross-tissue expression measurements are powerfully predictive of gene function
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Comparative genomic analysis reveals a novel mitochondrial isoform of human rTS protein and unusual phylogenetic distribution of the rTS gene.
PMID 16162288 · PMC1261261 · BMC genomics · 2005 · 8 claims · 5 setups
A novel rTS protein isoform, rTSγ, exists with a 27-residue longer N-terminus generated from an alternative upstream start codon relative to rTSβ.
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A novel method of screening thrombin-inhibiting DNA aptamers using an evolution-mimicking algorithm.
PMID 16002787 · PMC1174901 · Nucleic acids research · 2005 · 8 claims · 5 setups
An evolution-mimicking algorithm (EMA) that shuffles and mutates loop sequences while keeping the G-quartet intact can screen DNA aptamers based on inhibitory activity rather than binding affinity.
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Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.
PMID 17554261 · PMC2628541 · Nature genetics · 2007 · 8 claims · 8 setups
IRGM SNPs (rs13361189, rs4958847) show strong replicated association with Crohn disease; IRGM induces autophagy and control of intracellular bacteria
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A genome wide linkage scan of metacarpal size and geometry in the Framingham Study.
PMID 18449921 · PMC2574919 · American journal of human biology : the official journal of the Human Biology Council · 2008 · 8 claims · 4 setups
Metacarpal geometric indices (length, midshaft width, MCT, MCI, MZ) show significant heritability, ranging from 0.51 (MCT) to 0.82 (length)
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How many human genes can be defined as housekeeping with current expression data?
PMID 18416810 · PMC2396180 · BMC genomics · 2008 · 8 claims · 4 setups
Current EST and microarray transcriptome sampling is far from saturated, limiting gene detectability and understanding of tissue-specific expression
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Whole genome comparative studies between chicken and turkey and their implications for avian genome evolution.
PMID 18410676 · PMC2375447 · BMC genomics · 2008 · 8 claims · 7 setups
Chicken and turkey genomes differ by only two inter-chromosomal rearrangements (GGA2 orthologous to MGA3+6; GGA4 orthologous to MGA4+9), both involving centromeres.
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A genome-wide association study of social and non-social autistic-like traits in the general population using pooled DNA, 500 K SNP microarrays and both community and diagnosed autism replication samples.
PMID 20012890 · PMC2797846 · Behavior genetics · 2010 · 6 claims · 4 setups
SNP Microarrays and Pooling (SNP-MaP) is a valid economical method for genome-wide screening of quantitative trait extremes using pooled DNA on microarrays
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PALB2 variants in hereditary and unselected Finnish prostate cancer cases.
PMID 20003494 · PMC2806404 · Journal of negative results in biomedicine · 2009 · 8 claims · 6 setups
None of the detected PALB2 variants, including 1592delT, show significant association with PRCA at the population level in Finland
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The past and future of tuberculosis research.
PMID 19855821 · PMC2745564 · PLoS pathogens · 2009 · 8 claims · 6 setups
Integrating systems biology with epidemiology ('systems epidemiology') will be required to better predict TB's trajectory and eliminate the disease
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Investigating the genetic association between ERAP1 and ankylosing spondylitis.
PMID 19692350 · PMC2758148 · Human molecular genetics · 2009 · 8 claims · 8 setups
The genetic association between ERAP1 and AS is confirmed in an independent replication cohort