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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Twin peaks: the draft human genome sequence.
PMID 11276423 · PMC138909 · Genome biology · 2001 · 8 claims · 8 setups
The predicted number of human genes (~26,000-40,000) is far lower than the widely assumed ~100,000, though downstream RNA/protein complexity can still generate substantial biological complexity.
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A third approach to gene prediction suggests thousands of additional human transcribed regions.
PMID 16543943 · PMC1391917 · PLoS computational biology · 2006 · 8 claims · 7 setups
A third basic concept for gene prediction exists, based on detecting strand-specific 'transcription footprints' (mutational and selectional biases) rather than gene structure or sequence similarity.
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Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence.
PMID 12702206 · PMC154576 · Genome biology · 2003 · 8 claims · 6 setups
Segmental duplications comprise 3.53% (107.4/3,043.1 Mb) of the June 2002 human genome assembly
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Inference of transcriptional regulation using gene expression data from the bovine and human genomes.
PMID 17683551 · PMC1978505 · BMC genomics · 2007 · 7 claims · 8 setups
Using human reference promoter sequences is a useful approach for studying gene expression regulation in species with limited or non-existing genomic sequence, such as cattle.
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The jewels of our genome: the search for the genomic changes underlying the evolutionarily unique capacities of the human brain.
PMID 16733552 · PMC1464830 · PLoS genetics · 2006 · 8 claims · 7 setups
Human and chimp genomes differ by ~35 million single nucleotide substitutions, corresponding to ~1.06% divergence after removing polymorphic sites
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Satellog: a database for the identification and prioritization of satellite repeats in disease association studies.
PMID 15949044 · PMC1181805 · BMC bioinformatics · 2005 · 7 claims · 6 setups
Satellog is a database cataloging all pure 1-16 unit satellite repeats in the human genome with supplementary polymorphism, gene-location, and expression data for prioritizing repeats in disease-association studies.
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Functional genomics of early cortex patterning.
PMID 16515721 · PMC1431711 · Genome biology · 2006 · 7 claims · 6 setups
The neocortical protomap is established as continuous rostro-caudal gradients of gene expression in progenitor cells, not discrete compartments
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Patterns and rates of intron divergence between humans and chimpanzees.
PMID 17309804 · PMC1852421 · Genome biology · 2007 · 8 claims · 6 setups
Intron divergence (Ki) is strongly positively correlated with intron length
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Imputation of missing genotypes: an empirical evaluation of IMPUTE.
PMID 19077279 · PMC2636842 · BMC genetics · 2008 · 8 claims · 7 setups
IMPUTE achieves 97% median genotype imputation accuracy in Caucasian (NNC) subjects when <10% of SNPs are untyped
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High resolution analysis of the human transcriptome: detection of extensive alternative splicing independent of transcriptional activity.
PMID 19804644 · PMC2768739 · BMC genetics · 2009 · 8 claims · 6 setups
The human GWSA uses exon body and exon-exon junction probes to directly measure over 280,000 known and predicted splicing events genome-wide.
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Identifying cis-regulatory sequences by word profile similarity.
PMID 19730735 · PMC2731932 · PloS one · 2009 · 8 claims · 8 setups
WPH-finder identifies putative co-regulated CRMs by scanning the genome for sequences with word profiles similar to a known CRM, without explicitly defining binding sites
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Meeting highlights: beyond the genome 2000: the 18th International Congress of Biochemistry and Molecular Biology.
PMID 11119309 · PMC2448388 · Yeast (Chichester, England) · 2000 · 8 claims · 8 setups
Celera sequenced a human genome to ~45-fold coverage from one donor and used high-quality sequence stretches to define ~6 million SNPs
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Discovery and hypothesis generation through bioinformatics.
PMID 16522224 · PMC1431734 · Genome biology · 2006 · 8 claims · 8 setups
Bioinformatics should be used as a tool for discovery and hypothesis generation, not merely to manage biological data
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Outlook on Thailand's genomics and computational biology research and development.
PMID 18654621 · PMC2446437 · PLoS computational biology · 2008 · 8 claims · 8 setups
Thai government policy support, infrastructure investment, education programs, and human resource development have substantially advanced genomics and bioinformatics research capacity in Thailand
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In silico meets in vivo.
PMID 18304380 · PMC2374716 · Genome biology · 2008 · 8 claims · 8 setups
About 10% of positions in multiple sequence alignments of the human genome with other vertebrate genomes are likely incorrect.
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Has reproduction · 90
A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndrome.
PMID 30833571 · PMC6399342 · Nature communications · 2019 · 6 claims · 8 setups
A GWAS of 12,312 CTS cases and 389,344 controls in UK Biobank identifies 16 novel genome-wide significant susceptibility loci for CTS
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Has reproduction · 74
Disome-seq reveals widespread ribosome collisions that promote cotranslational protein folding.
PMID 33402206 · PMC7784341 · Genome biology · 2021 · 8 claims · 6 setups
Disome-seq detects widespread, previously hidden ribosome collisions across endogenous coding sequences in fast-proliferating yeast cells.
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Methylation patterns of the nasal epigenome of hospitalized SARS-CoV-2 positive patients reveal insights into molecular mechanisms of COVID-19.
PMID 40170038 · PMC11963311 · BMC medical genomics · 2025 · 7 claims · 7 setups
Differential DNA methylation occurs predominantly in intergenic regions and low methylated regions (LMRs), highlighting the role of distal regulatory elements in COVID-19 severity.
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Has reproduction · 54
EpiDiverse Toolkit: a pipeline suite for the analysis of bisulfite sequencing data in ecological plant epigenetics.
PMID 34805989 · PMC8598301 · NAR genomics and bioinformatics · 2021 · 8 claims · 5 setups
EpiDiverse Toolkit provides Nextflow-based pipelines for WGBS mapping, methylation calling, variant calling, differential methylation, and EWAS tailored to non-model plant ecology
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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.