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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CRSD: a comprehensive web server for composite regulatory signature discovery.
PMID 16845073 · PMC1538777 · Nucleic acids research · 2006 · 7 claims · 5 setups
CRSD is a comprehensive web server integrating six large-scale databases (UniGene, mature microRNAs, putative promoter, TRANSFAC, pathway, GO) plus two newly constructed genome-wide databases (MRS and TRS) for composite regulatory signature discovery
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Molecular characterization of retinitis pigmentosa in Saudi Arabia.
PMID 19956407 · PMC2786884 · Molecular vision · 2009 · 8 claims · 7 setups
The causative mutation was identified in 51 of 52 (94%/98%) Saudi RP patients, including seven novel mutations.
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A method for detecting epistasis in genome-wide studies using case-control multi-locus association analysis.
PMID 18667089 · PMC2533022 · BMC genomics · 2008 · 7 claims · 2 setups
HFCC is a method/software for genome-wide epistasis detection using case-control multi-locus association analysis, combining a fast computing algorithm with flexibility to test a variety of epistatic models.
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The distribution of SNPs in human gene regulatory regions.
PMID 16209714 · PMC1260019 · BMC genomics · 2005 · 8 claims · 6 setups
SNPs occur with higher density closer to the transcriptional start site within gene promoter regions than in further upstream regions
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GPCR genes are preferentially retained after whole genome duplication.
PMID 18382678 · PMC2270905 · PloS one · 2008 · 8 claims · 6 setups
WGD-derived nGPCR duplicates in Tetraodon nigroviridis are retained at a significantly higher rate (23.5%) than the genome-wide average (15%)
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A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family.
PMID 19753316 · PMC2742643 · Molecular vision · 2009 · 8 claims · 6 setups
A novel nonsense mutation (c.614C>A; p.S205X) in exon 1 of GRK1 causes disease in family RP19
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Evaluation of multiple displacement amplification in a 5 cM STR genome-wide scan.
PMID 16055919 · PMC1182175 · Nucleic acids research · 2005 · 7 claims · 5 setups
MDA genotyping call rates and accuracy are only marginally lower than for genomic DNA
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Efficacy assessment of SNP sets for genome-wide disease association studies.
PMID 17726055 · PMC2034459 · Nucleic acids research · 2007 · 6 claims · 4 setups
τ, derived from Shannon entropy and swept radius ɛ, approximates the relative sample size efficiency of a marker set for mapping a causal variant at a given map position compared to a maximally polymorphic SNP
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Patterns of evolutionary constraints on genes in humans.
PMID 18840274 · PMC2587479 · BMC evolutionary biology · 2008 · 7 claims · 6 setups
BaseDiver, a novel framework integrating GERP score and derived allele frequency (DAF) at nonsynonymous coding SNPs, can classify GO functional categories by patterns of evolutionary constraint
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A genome-wide survey of segmental duplications that mediate common human genetic variation of chromosomal architecture.
PMID 15588494 · PMC3525102 · Human genomics · 2004 · 8 claims · 5 setups
PSD-mediated genomic architecture analogous to the 8p23/4p16 inversion regions is not unique to those loci but recurs genome-wide.
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Has reproduction · 42
KAGE: fast alignment-free graph-based genotyping of SNPs and short indels.
PMID 36195962 · PMC9531401 · Genome biology · 2022 · 7 claims · 7 setups
KAGE combines population-based kmer count modeling with single-variant prior adjustment into an alignment-free genotyper that matches the accuracy of the best existing alignment-free genotypers while being an order of magnitude faster.
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Whither genomics?
PMID 11104516 · PMC138820 · Genome biology · 2000 · 8 claims · 8 setups
Genomics is both a science (understanding genome structure/evolution) and a tool (learning gene function) that collects comprehensive data on all genes, in contrast to genetics which studies a few genes controlling a phenotype
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Has reproduction
Comprehensive enhancer-target gene assignments improve gene set level interpretation of genome-wide regulatory data.
PMID 35473573 · PMC9044877 · Genome biology · 2022 · 8 claims · 8 setups
Combining multiple enhancer-definition and enhancer-gene link data sources yields 1860 genome-wide EnTDefs covering >500 cell types
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Has reproduction · 64
Genetic introgression from commercial European pigs to the indigenous Chinese Lijiang breed and associated changes in phenotypes.
PMID 38566006 · PMC10985947 · Genetics, selection, evolution : GSE · 2024 · 7 claims · 7 setups
Significant genetic introgression from commercial European pigs (EP) into the Lijiang pig (LJP) and other domestic Chinese pig breeds was detected.
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The Proteomic Code: a molecular recognition code for proteins.
PMID 17999762 · PMC2206014 · Theoretical biology & medical modelling · 2007 · 8 claims · 8 setups
The Proteomic Code is a set of rules by which genetic information is transferred into the physico-chemical properties of amino acids, determining protein-protein interactions and folding; it is part of the redundant Genetic Code.
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Genome screen to detect linkage to common susceptibility genes for intracranial and aortic aneurysms.
PMID 18948608 · PMC2629798 · Stroke · 2009 · 8 claims · 4 setups
Genomewide linkage analysis in 26 multiplex IA families with AA-affected members identified LOD peaks on chromosome 11 (LOD=3.0) and chromosome 6 (LOD=2.3) using a broad IA/AA-combined phenotype
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What can genome-wide association studies tell us about the genetics of common disease?
PMID 18454206 · PMC2323402 · PLoS genetics · 2008 · 8 claims · 4 setups
Apparent patterns of common, low-effect disease-associated alleles largely reflect statistical power of studies rather than the true underlying distribution of disease variants
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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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Replication by the Epistasis Project of the interaction between the genes for IL-6 and IL-10 in the risk of Alzheimer's disease.
PMID 19698145 · PMC2744667 · Journal of neuroinflammation · 2009 · 8 claims · 4 setups
IL6 rs2069837 AA x IL10 rs1800871 CC interaction is associated with increased AD risk (synergy factor 1.63)
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Long-range regulation is a major driving force in maintaining genome integrity.
PMID 19682388 · PMC2741452 · BMC evolutionary biology · 2009 · 7 claims · 5 setups
Long-range transcriptional regulation is a major driving force in maintaining genome integrity by constraining where chromosomal breakpoints can become fixed.