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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Chromosome-wide identification of novel imprinted genes using microarrays and uniparental disomies.
PMID 16855283 · PMC1524921 · Nucleic acids research · 2006 · 8 claims · 5 setups
Four novel brain-specific paternally expressed transcripts (BB077283, BM117114, AK080843, AV328498) were identified and validated on proximal Chr 7.
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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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Accurate whole human genome sequencing using reversible terminator chemistry.
PMID 18987734 · PMC2581791 · Nature · 2008 · 8 claims · 7 setups
A novel sequencing platform using fluorescent reversible terminator nucleotides on clonally amplified single-molecule DNA clusters generates several billion bases of accurate sequence per experiment at low cost.
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Has reproduction · 100
Whole-genome sequencing of cryopreserved resources from French Large White pigs at two distinct sampling times reveals strong signatures of convergent and divergent selection between the dam and sire lines.
PMID 36864379 · PMC9979506 · Genetics, selection, evolution : GSE · 2023 · 6 claims · 8 setups
French LWD and LWS lines have lost approximately 5% of the SNPs that segregated in the 1977 ancestral population.
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Comprehensive search for intra- and inter-specific sequence polymorphisms among coding envelope genes of retroviral origin found in the human genome: genes and pseudogenes.
PMID 16150157 · PMC1236922 · BMC genomics · 2005 · 8 claims · 5 setups
HERV-W (envW) and HERV-FRD (envFRD) envelope genes, both specifically expressed in placenta, show strong sequence conservation with only two nonsynonymous SNPs identified across 91 individuals
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Construction and analysis of tag single nucleotide polymorphism maps for six human-mouse orthologous candidate genes in type 1 diabetes.
PMID 15720714 · PMC551616 · BMC genetics · 2005 · 7 claims · 5 setups
None of the six candidate gene regions showed evidence of association with type 1 diabetes (all multi-locus/single-locus test P values > 0.2)
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Has reproduction · 53
Estimates of recent and historical effective population size in turbot, seabream, seabass and carp selective breeding programmes.
PMID 34742227 · PMC8572424 · Genetics, selection, evolution : GSE · 2021 · 7 claims · 7 setups
Current effective population size for all four farmed fish populations is small (≤50 fish), potentially threatening breeding-programme sustainability
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Polymorphism at the C-reactive protein locus influences gene expression and predisposes to systemic lupus erythematosus.
PMID 14645206 · PMC3707088 · Human molecular genetics · 2004 · 8 claims · 5 setups
The minor (rare) allele of CRP SNP 'CRP 4' is associated/linked with development of SLE in family-based transmission studies.
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Genetic variants of adiponectin receptor 2 are associated with increased adiponectin levels and decreased triglyceride/VLDL levels in patients with metabolic syndrome.
PMID 16700915 · PMC1482678 · Cardiovascular diabetology · 2006 · 8 claims · 6 setups
A haplotype of three AdipoR2 variants (+795G/A, +870C/A, +963C/T) in perfect linkage disequilibrium is associated with higher plasma adiponectin levels and lower fasting triglyceride, VLDL-triglyceride, and VLDL-cholesterol levels
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Genetic variants of chemokine receptor CCR7 in patients with systemic lupus erythematosus, Sjogren's syndrome and systemic sclerosis.
PMID 17587445 · PMC1913537 · BMC genetics · 2007 · 6 claims · 4 setups
CCR7 gene variants occur at extremely low frequency (allelic frequencies ≤5%) in the German population
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"Sequencing-grade" screening for BRCA1 variants by oligo-arrays.
PMID 18973698 · PMC2583995 · Journal of translational medicine · 2008 · 7 claims · 6 setups
An oligo-array platform can detect BRCA1 SNPs, insertions, and deletions of known and unknown variants, including in heterozygous conditions, with accuracy comparable to direct sequencing
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Mutation screening of HSF4 in 150 age-related cataract patients.
PMID 18941546 · PMC2569895 · Molecular vision · 2008 · 8 claims · 4 setups
Five new HSF4 sequence variants (c.1020-25G>A, c.1078A>G, c.1223C>T, c.1256+25C>T, c.1286C>T) were found in age-related cataract patients but not in 220 controls.
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Has reproduction · 100
Genomic approaches used to investigate an atypical outbreak of Salmonella Adjame.
PMID 30648934 · PMC6412060 · Microbial genomics · 2019 · 7 claims · 7 setups
The S. Adjame outbreak produced a heterogeneous phylogeny with multiple temporally/geographically linked sub-clusters, atypical of a point-source Salmonella outbreak and consistent with contamination from an endemic mixed-strain source (imported South Asian herbs/spices).
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Has reproduction · 51
Evaluation of the Available Variant Calling Tools for Oxford Nanopore Sequencing in Breast Cancer.
PMID 36140751 · PMC9498802 · Genes · 2022 · 7 claims · 6 setups
Clair3 and Human-SNP-wf (which incorporates Clair3) achieved the highest performance among the six variant callers tested.
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CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity.
PMID 15507145 · PMC526769 · BMC medical genetics · 2004 · 8 claims · 7 setups
PCR amplification and sequencing of CLC-2 revealed 1 SNP in the promoter, 4 SNPs in intron 1, and none in exon 20
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The impact of low-cost, genome-wide resequencing on association studies.
PMID 16004723 · PMC3525269 · Human genomics · 2005 · 8 claims · 4 setups
The HapMap project provides more than 500,000 SNPs across three major human populations, enabling genome-wide association studies via linkage disequilibrium tagging.
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The Genographic Project public participation mitochondrial DNA database.
PMID 17604454 · PMC1904368 · PLoS genetics · 2007 · 7 claims · 4 setups
The Genographic Project created the largest standardized human mtDNA database to date, comprising 78,590 genotypes from the first 18 months of public participation.
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Association of adiponectin gene polymorphisms with type 2 diabetes in an African American population enriched for nephropathy.
PMID 19056609 · PMC2628626 · Diabetes · 2009 · 8 claims · 5 setups
SNP rs182052 in intron 1 of ADIPOQ is associated with diabetic nephropathy in African Americans
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Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis.
PMID 18334959 · PMC2268850 · Molecular vision · 2008 · 7 claims · 5 setups
A homozygous c.955G>A mutation at the last base of exon 6 of LCA5 disrupts the normal splice donor site.
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Non-imprinted allele-specific DNA methylation on human autosomes.
PMID 19958531 · PMC2812945 · Genome biology · 2009 · 8 claims · 7 setups
SNPs within CpG islands are associated with allele-specific DNA methylation differences between alleles.