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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A simple and efficient algorithm for genome-wide homozygosity analysis in disease.
PMID 19756043 · PMC2758715 · Molecular systems biology · 2009 · 8 claims · 4 setups
A genome-wide AH analysis (GAHA) algorithm can identify disease-associated loci by comparing frequencies of homozygous segments between cases and controls using a z-statistic proportion test
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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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Spontaneous symmetry breaking in genome evolution.
PMID 18367477 · PMC2377439 · Nucleic acids research · 2008 · 6 claims · 3 setups
Exon size distributions in sequenced genomes follow a lognormal pattern typical of a random Kolmogoroff fractioning process
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High-density single nucleotide polymorphism genome-wide linkage scan for susceptibility genes for diabetic nephropathy in type 1 diabetes: discordant sibpair approach.
PMID 18559660 · PMC2518505 · Diabetes · 2008 · 8 claims · 3 setups
Primary linkage finding for diabetic nephropathy is on chromosome 19q
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Simple models of genomic variation in human SNP density.
PMID 17553150 · PMC1919371 · BMC genomics · 2007 · 6 claims · 4 setups
Hierarchical Poisson model B, which allows both the mutation-rate proxy (Beta-distributed Λ) and the ARG-size proxy (Gamma-distributed T) to vary, fits the observed SNP density distribution significantly better than models with only one or neither varying.
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Association of poly-purine/poly-pyrimidine sequences with meiotic recombination hot spots.
PMID 16846522 · PMC1543642 · BMC genomics · 2006 · 7 claims · 6 setups
PPT frequency is significantly elevated in yeast meiotic recombination hot spots compared with cold spots
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Has reproduction · 98
Mutations in dnaA and a cryptic interaction site increase drug resistance in Mycobacterium tuberculosis.
PMID 33253310 · PMC7738170 · PLoS pathogens · 2020 · 7 claims · 8 setups
Non-synonymous mutations in dnaA are statistically associated with drug resistance (INH, RIF, SM) in clinical M. tuberculosis strains across two independent GWAS cohorts (China and Vietnam)
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POCUS: mining genomic sequence annotation to predict disease genes.
PMID 14611661 · PMC329128 · Genome biology · 2003 · 8 claims · 6 setups
Genes predisposing to the same disease tend to share functional annotation IDs (GO/InterPro) more than expected by chance
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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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A space-efficient and accurate method for mapping and aligning cDNA sequences onto genomic sequence.
PMID 18344523 · PMC2377433 · Nucleic acids research · 2008 · 7 claims · 6 setups
Spaln maps and aligns large cDNA sequence sets onto whole mammalian genomes using substantially less memory than comparable existing tools
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Commonality of functional annotation: a method for prioritization of candidate genes from genome-wide linkage studies.
PMID 18263617 · PMC2275105 · Nucleic acids research · 2008 · 8 claims · 7 setups
Genes correlated with a common complex trait are more likely to share GO functional annotations than genes not correlated with that trait
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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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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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Directionality of point mutation and 5-methylcytosine deamination rates in the chimpanzee genome.
PMID 17166280 · PMC1764022 · BMC genomics · 2006 · 8 claims · 6 setups
C→T (G→A) changes occur most frequently among nucleotide substitutions in the chimpanzee genome
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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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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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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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Conserved elements with potential to form polymorphic G-quadruplex structures in the first intron of human genes.
PMID 18187510 · PMC2275096 · Nucleic acids research · 2008 · 8 claims · 6 setups
G-richness downstream of the TSS is strand-biased, concentrated on the nontemplate strand, with a peak at +200 to +300 bp
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Neonatal salivary analysis reveals global developmental gene expression changes in the premature infant.
PMID 19959617 · PMC2853178 · Clinical chemistry · 2010 · 7 claims · 6 setups
Salivary genomic microarray analysis reveals global developmental gene expression changes in premature infants over postnatal age
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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.