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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Computation of haplotypes on SNPs subsets: advantage of the "global method".
PMID 17067372 · PMC1636337 · BMC genetics · 2006 · 6 claims · 4 setups
The global method for subhaplotyping always yields a lower error rate than the direct method across datasets and SNP subset sizes
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Whole genome association mapping by incompatibilities and local perfect phylogenies.
PMID 17042942 · PMC1624851 · BMC bioinformatics · 2006 · 8 claims · 8 setups
Blossoc scores the perfect phylogenetic tree spanning the largest compatible region around each marker as a decision tree for case/control status to detect association
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Direct maximum parsimony phylogeny reconstruction from genotype data.
PMID 18053244 · PMC2222657 · BMC bioinformatics · 2007 · 6 claims · 4 setups
The paper presents the first practical method for computing maximum parsimony phylogenies directly from genotype data, using integer linear programming.
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Bayesian survival analysis in genetic association studies.
PMID 18617538 · PMC2530885 · Bioinformatics (Oxford, England) · 2008 · 7 claims · 5 setups
A novel Bayesian method (BETA-Surv) extends prior case-control haplotype-clustering work to censored survival outcomes by clustering haplotypes via gene tree/perfect phylogeny topology and relative mutation age.
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Selecting additional tag SNPs for tolerating missing data in genotyping.
PMID 16259642 · PMC1316880 · BMC bioinformatics · 2005 · 7 claims · 6 setups
There exists a subset of SNPs (robust tag SNPs) that can distinguish all distinct haplotypes even when up to m SNPs are missing
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Analyses and comparison of accuracy of different genotype imputation methods.
PMID 18958166 · PMC2569208 · PloS one · 2008 · 8 claims · 3 setups
Stronger LD produces higher imputation accuracy rates for all five methods
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Bayesian estimates of linkage disequilibrium.
PMID 17592642 · PMC1924864 · BMC genetics · 2007 · 8 claims · 3 setups
The MLE of D' is biased toward disequilibrium, with the bias particularly severe in small samples (<100 subjects) and rare alleles (MAF<0.05)
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Analysis of concordance of different haplotype block partitioning algorithms.
PMID 16356172 · PMC1343594 · BMC bioinformatics · 2005 · 7 claims · 7 setups
Each block partitioning algorithm infers blocks differing in number, size, and coverage under different SNP density and allele frequency conditions.
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Cubic exact solutions for the estimation of pairwise haplotype frequencies: implications for linkage disequilibrium analyses and a web tool 'CubeX'.
PMID 17980034 · PMC2180187 · BMC bioinformatics · 2007 · 6 claims · 4 setups
CubeX, a Python program/web tool, computes the exact algebraic (Cardan/Nickalls) solution(s) of Hill's cubic equation to estimate pairwise haplotype frequencies, D', r2 and chi-square for each solution
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SNPAnalyzer: a web-based integrated workbench for single-nucleotide polymorphism analysis.
PMID 15980517 · PMC1160189 · Nucleic acids research · 2005 · 8 claims · 4 setups
SNPAnalyzer is an integrated web-based workbench that performs four statistical SNP analyses (Hardy-Weinberg equilibrium, haplotype estimation, linkage disequilibrium, and QTL analysis) in one common computational environment.
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Absence of the TAP2 human recombination hotspot in chimpanzees.
PMID 15208713 · PMC423135 · PLoS biology · 2004 · 6 claims · 7 setups
The human TAP2 recombination hotspot is absent from the homologous region in western chimpanzees.
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Genome-wide prediction of functional gene-gene interactions inferred from patterns of genetic differentiation in mice and men.
PMID 18270580 · PMC2217631 · PloS one · 2008 · 8 claims · 6 setups
Pairs of unlinked SNPs showing excess genetic differentiation (LD in mouse RILs, Fst in human populations) beyond what simulations/coalescent models predict by chance represent candidate functionally interacting (epistatic) gene pairs.
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Relation of candidate genes that encode for endothelial function to migraine and stroke: the Stroke Prevention in Young Women study.
PMID 19661472 · PMC2753702 · Stroke · 2009 · 8 claims · 6 setups
EDN SNP rs1800542 is associated with increased ischemic stroke risk in Caucasian women
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Has reproduction · 75
Sequencing of human genomes with nanopore technology.
PMID 31015479 · PMC6478738 · Nature communications · 2019 · 8 claims · 7 setups
A novel single-sample, reference panel-free, read-based phasing algorithm built on the STITCH model improves nanopore SNV calling from modest baseline levels.
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Has reproduction · 93
A comparative study on recombination activity in cattle.
PMID 41942849 · PMC13067647 · Genetics, selection, evolution : GSE · 2026 · 8 claims · 8 setups
Genotype data with high systematic missingness across breeds and arrays can be streamlined and analysed with three complementary recombination-estimation approaches (HMM-based LINKPHASE3, deterministic hsphase, likelihood-based hsrecombi)
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SNP@Evolution: a hierarchical database of positive selection on the human genome.
PMID 19732458 · PMC2755008 · BMC evolutionary biology · 2009 · 7 claims · 6 setups
SNP@Evolution is a hierarchical database integrating HET, FST, and iHS from HapMap Phase II and III to identify genome-wide positive selection signals
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Information-theoretic identification of predictive SNPs and supervised visualization of genome-wide association studies.
PMID 16899448 · PMC1557808 · Nucleic acids research · 2006 · 7 claims · 4 setups
3D VizStruct (DFT-based radial mapping + KLD as z-axis) can identify SNPs/polymorphic markers that are predictive of underlying biological class distinctions across diverse datasets
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A procedure for the detection of linkage with high density SNP arrays in a large pedigree with colorectal cancer.
PMID 17222328 · PMC1784097 · BMC cancer · 2007 · 7 claims · 8 setups
A workflow combining Alohomora, Mega2, MENDEL, SNPLINK and SimWalk2 enables linkage analysis with high-density SNP arrays in large pedigrees (>35-40 bits) that exceed the capacity of single existing programs
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No evidence of a Neanderthal contribution to modern human diversity.
PMID 18304371 · PMC2374707 · Genome biology · 2008 · 8 claims · 7 setups
There is no evidence of any Neanderthal contribution to modern human genetic diversity
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A genome search for primary vesicoureteral reflux shows further evidence for genetic heterogeneity.
PMID 18197425 · PMC2259258 · Pediatric nephrology (Berlin, Germany) · 2008 · 8 claims · 7 setups
Genome-wide linkage analysis identifies several novel loci for primary VUR on chromosomes 1, 3, 4, and 22, supporting genetic heterogeneity.