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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Size matters: just how big is BIG?: Quantifying realistic sample size requirements for human genome epidemiology.
PMID 18676414 · PMC2639365 · International journal of epidemiology · 2009 · 7 claims · 2 setups
Conventional power calculations for case-control studies disregard analytic complexity (e.g. clinical assessment errors, unmeasured aetiological determinants) and can seriously underestimate true sample size requirements
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Calculating expected DNA remnants from ancient founding events in human population genetics.
PMID 18928554 · PMC2588638 · BMC genetics · 2008 · 8 claims · 3 setups
Genetic parameters (native/migrant population size, mutation rate, generations since admixture) strongly determine the final frequency of migrant alleles detectable today.
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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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Has reproduction · 100
nf-core/mag: a best-practice pipeline for metagenome hybrid assembly and binning.
PMID 35118380 · PMC8808542 · NAR genomics and bioinformatics · 2022 · 8 claims · 7 setups
nf-core/mag is a Nextflow/nf-core pipeline for hybrid metagenome assembly, binning and taxonomic classification of MAGs.
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Has reproduction · 83
SIRE 2.0: a novel method for estimating polygenic host effects underlying infectious disease transmission, and analytical expressions for prediction accuracies.
PMID 40169992 · PMC11963337 · Genetics, selection, evolution : GSE · 2025 · 8 claims · 2 setups
SIRE 2.0 is a novel Bayesian methodology and software tool for estimating polygenic contributions (variance components and additive genetic effects) to host susceptibility, infectivity and recoverability from temporal epidemic data using pedigree/genomic relationship matrices.
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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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Modeling the amplification dynamics of human Alu retrotransposons.
PMID 16201008 · PMC1239904 · PLoS computational biology · 2005 · 8 claims · 4 setups
Combining sequence diversity (π) and insertion polymorphism level (IPL) statistics can statistically exclude implausible Alu amplification scenarios and narrow the range of plausible ones for individual subfamilies.
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Evolutionary distance estimation and fidelity of pair wise sequence alignment.
PMID 15840174 · PMC1087827 · BMC bioinformatics · 2005 · 8 claims · 8 setups
Evolutionary distance estimation is relatively unaffected by alignment error as long as 50% or more of homologous sites remain identical between sequences
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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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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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A response to Yu et al. "A forward-backward fragment assembling algorithm for the identification of genomic amplification and deletion breakpoints using high-density single nucleotide polymorphism (SNP) array", BMC Bioinformatics 2007, 8: 145.
PMID 17939873 · PMC2222656 · BMC bioinformatics · 2007 · 8 claims · 4 setups
Yu et al.'s original comparison ran RJaCGH's MCMC sampler for a severely insufficient number of iterations (50 burn-in, 500 total)
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Is replication the gold standard for validating genome-wide association findings?
PMID 19112512 · PMC2605260 · PloS one · 2008 · 8 claims · 4 setups
The probability of replicating a specific GWA-identified variant decreases as the number of independent GWA/replication studies increases, when individual study power is less than 100%.
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BreakDancer: an algorithm for high-resolution mapping of genomic structural variation.
PMID 19668202 · PMC3661775 · Nature methods · 2009 · 8 claims · 8 setups
BreakDancer (BreakDancerMax + BreakDancerMini) is a software package that predicts a wide variety of structural variants including deletions, insertions, inversions, and intra/inter-chromosomal translocations from paired-end short-insert sequencing reads.
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Application of two machine learning algorithms to genetic association studies in the presence of covariates.
PMID 19014573 · PMC2620353 · BMC genetics · 2008 · 8 claims · 3 setups
The relative performance of RF and MARS for detecting genotype-trait associations depends on both the strategy used to handle covariates and the true underlying model of association (e.g., confounding vs. mediation vs. interaction).
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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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Optimized mixed Markov models for motif identification.
PMID 16749929 · PMC1534070 · BMC bioinformatics · 2006 · 8 claims · 4 setups
OMiMa can incorporate more than NNSplice's pairwise dependencies
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Has reproduction · 84
An accurate method for identifying recent recombinants from unaligned sequences.
PMID 35025988 · PMC8963311 · Bioinformatics (Oxford, England) · 2022 · 8 claims · 4 setups
A novel algorithm combining the JHMM (Zilversmit et al. 2013) mosaic representation with a distance-based triple comparison can identify recombinant sequences and their parents from unaligned, gene-length sequences without a reference panel.
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A statistical approach designed for finding mathematically defined repeats in shotgun data and determining the length distribution of clone-inserts.
PMID 15626332 · PMC5172250 · Genomics, proteomics & bioinformatics · 2003 · 8 claims · 6 setups
Repeats of different copy number have distinct probabilities of appearance in shotgun data, which can be modeled statistically to define recognition thresholds (MDRs) at different shotgun coverages.
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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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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