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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Genetics of autistic disorders: review and clinical implications.
PMID 19941018 · PMC2839494 · European child & adolescent psychiatry · 2010 · 8 claims · 8 setups
AD are predominantly genetically determined disorders with heritability of around 90%.
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Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies.
PMID 17953491 · PMC2039766 · PLoS genetics · 2007 · 8 claims · 5 setups
CNVs are not easily tagged by SNPs and often fall in genomic regions poorly covered by whole-genome SNP arrays or not genotyped by HapMap, so current GWASs have largely missed their contribution to complex disorders.
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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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Has reproduction · 68
Mod(mdg4) variants repress telomeric retrotransposon HeT-A by blocking subtelomeric enhancers.
PMID 36373634 · PMC9723646 · Nucleic acids research · 2022 · 8 claims · 8 setups
Specific splice variants of Mod(mdg4) repress HeT-A by blocking subtelomeric enhancers in ovarian somatic cells (OSCs)
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Evolution of motif variants and positional bias of the cyclic-AMP response element.
PMID 17288573 · PMC1796609 · BMC evolutionary biology · 2007 · 8 claims · 4 setups
Canonical CRE positional bias toward the -1 to -150 bp TSS region is present in vertebrates (human, mouse, rat, chicken, frog, zebrafish) but absent in sea squirt, fruit fly and worm.
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Genome-wide analysis of human disease alleles reveals that their locations are correlated in paralogous proteins.
PMID 18989397 · PMC2565504 · PLoS computational biology · 2008 · 7 claims · 5 setups
The locations of sequence variants are correlated between paralogous human proteins more than expected by chance.
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Has reproduction
Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.
PMID 30578418 · PMC6365102 · Nature genetics · 2019 · 7 claims · 8 setups
208 novel common blood pressure SNPs and 53 rare variants were discovered in GWASs of SBP, DBP and pulse pressure in up to 776,078 participants from MVP and collaborating studies.
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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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Mechanisms of disease: genetic insights into the etiology of type 2 diabetes and obesity.
PMID 18212765 · PMC7116808 · Nature clinical practice. Endocrinology & metabolism · 2008 · 8 claims · 8 setups
Six high-density genome-wide association studies in over 19,000 individuals identified approximately ten T2D-susceptibility loci, including HHEX, IDE, SLC30A8, FTO, CDKAL1, CDKN2A/CDKN2B, and IGF2BP2.
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Current status and the future for the genetics of type I diabetes.
PMID 19956094 · PMC2805458 · Genes and immunity · 2009 · 8 claims · 7 setups
A T1DGC genome-wide association meta-analysis of >7500 cases and >9000 controls identified 42 distinct genomic locations associated with T1D at P<10^-6.
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Next-generation sequencing in aging research: emerging applications, problems, pitfalls and possible solutions.
PMID 19900591 · PMC2878865 · Ageing research reviews · 2010 · 8 claims · 8 setups
NGS platforms offer superior performance, specificity, and cost-effectiveness compared to traditional Sanger sequencing
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Has reproduction · 98
Recombination events restored the functional horned haplotypes in the offspring of polled parents.
PMID 41174470 · PMC12579413 · Genetics, selection, evolution : GSE · 2025 · 8 claims · 7 setups
In the Holstein-Friesian (HF) trio, the horned offspring arose from non-allelic homologous recombination in the gametes of the P_F/P_F sire.
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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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Simultaneous analysis of all SNPs in genome-wide and re-sequencing association studies.
PMID 18654633 · PMC2464715 · PLoS genetics · 2008 · 8 claims · 5 setups
A Bayesian-inspired penalised maximum likelihood stochastic search method can simultaneously analyse all SNPs (up to 500K) from a GWA study in a few hours on a desktop workstation
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Tandem repeats modify the structure of human genes hosted in segmental duplications.
PMID 19954527 · PMC2812944 · Genome biology · 2009 · 8 claims · 6 setups
Around 7% of primate-specific genes located within segmental duplications contain variable internal tandem repeats (ITRs).
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A genome-wide screen for copy number alterations in Aicardi syndrome.
PMID 19760649 · PMC3640635 · American journal of medical genetics. Part A · 2009 · 7 claims · 4 setups
Aicardi syndrome is thought to result from heterozygous defects in an essential X-linked gene, or from a sex-limited autosomal gene defect, due to its occurrence almost exclusively in females and in 47,XXY males.
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Genomic research and incidental findings.
PMID 18547197 · PMC2570703 · The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics · 2008 · 8 claims · 1 setups
Incidental findings in genomic research (the 'incidentalome') create complex legal, ethical, and financial problems that most researchers are neither prepared for nor willing to address.
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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 · 94
Genome-wide insights into population structure and host specificity of Campylobacter jejuni.
PMID 33990625 · PMC8121833 · Scientific reports · 2021 · 8 claims · 6 setups
Both core and accessory genome characteristics show strong association with distinct host animal species, indicating multiple independent adaptive trajectories rather than a single common evolutionary path
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Genome Network and FANTOM3: assessing the complexity of the transcriptome.
PMID 16683037 · PMC1449904 · PLoS genetics · 2006 · 8 claims · 7 setups
63% of the genome is transcribed from at least one strand, versus the earlier belief that only 2% is transcribed into protein-coding mRNA