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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Single nucleotide polymorphism-based genome-wide linkage analysis in Japanese atopic dermatitis families.
PMID 17900373 · PMC2082241 · BMC dermatology · 2007 · 8 claims · 4 setups
This is the first SNP-based genome-wide linkage study of atopic dermatitis performed in an Asian population.
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Evaluating the performance of commercial whole-genome marker sets for capturing common genetic variation.
PMID 17562002 · PMC1914356 · BMC genomics · 2007 · 8 claims · 5 setups
Commercial SNP panels provide levels of coverage in a non-reference Caucasian (Estonian) population similar to those seen in the HapMap CEPH (CEU) population sample
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Strong signature of natural selection within an FHIT intron implicated in prostate cancer risk.
PMID 18953408 · PMC2568805 · PloS one · 2008 · 8 claims · 8 setups
Re-sequencing and genotyping across a 28.5 kb region delineates the prostate cancer risk association within FHIT intron 5 to a 15 kb LD block in European-Americans.
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Genotype-phenotype associations: modulation by diet and obesity.
PMID 19037211 · PMC2771769 · Obesity (Silver Spring, Md.) · 2008 · 8 claims · 7 setups
Obesity modulates the association between APOE genotype and fasting insulin/glucose levels in men, with obese APOE4 carriers showing higher insulin and glucose than other obese genotype groups.
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Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.
PMID 16244706 · PMC1262189 · PLoS genetics · 2005 · 7 claims · 5 setups
Putative pathogenic RMRP mutations are located in highly conserved nucleotides across mammals, whereas polymorphisms are located in non-conserved positions.
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A re-annotation pipeline for Illumina BeadArrays: improving the interpretation of gene expression data.
PMID 19923232 · PMC2817484 · Nucleic acids research · 2010 · 8 claims · 7 setups
A Perl-based pipeline that BLASTs/BLATs Illumina probe sequences against genomes and transcript databases (RefSeq, UCSC Known Genes, UniGene/GenBank, Ensembl) can classify probes by quality grade (Perfect/Good/Bad/No match) and is applicable across 8 BeadArray platforms and other array types
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Designing candidate gene and genome-wide case-control association studies.
PMID 17947991 · PMC4180089 · Nature protocols · 2007 · 8 claims · 4 setups
Common complex diseases are influenced by multiple genetic and environmental factors that individually are neither necessary nor sufficient to cause disease
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Variation in genetic admixture and population structure among Latinos: the Los Angeles Latino eye study (LALES).
PMID 19903357 · PMC3087512 · BMC genetics · 2009 · 7 claims · 6 setups
LALES Latinos show strong evidence of recent population admixture, primarily from Native American and European ancestries with smaller Asian and African contributions.
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MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease.
PMID 19758471 · PMC2745589 · BMC bioinformatics · 2009 · 8 claims · 5 setups
MtSNPscore, a weighted scoring pipeline combining literature evidence, in silico predictions, and case/control frequency, can prioritize likely pathogenic mtDNA variations
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Single nucleotide polymorphisms in bone turnover-related genes in Koreans: ethnic differences in linkage disequilibrium and haplotype.
PMID 18036257 · PMC2222243 · BMC medical genetics · 2007 · 8 claims · 5 setups
Resequencing 81 candidate osteoporosis genes in 24 Koreans identified 942 variants (888 SNPs, 43 indels, 11 microsatellites)
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Analysis of sequence conservation at nucleotide resolution.
PMID 18166073 · PMC2230682 · PLoS computational biology · 2007 · 8 claims · 4 setups
SCONE (Sequence CONservation Evaluation) is a novel method that estimates evolutionary rate and a neutrality p-value for individual nucleotide positions in a multiple sequence alignment.
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Gene-environment interaction and obesity.
PMID 19019037 · PMC3683966 · Nutrition reviews · 2008 · 8 claims · 8 setups
Obesity susceptibility is largely genetically determined but requires environmental exposure (excess energy intake, low fiber, physical inactivity) to manifest phenotypically.
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Genomic medicine and developing countries: creating a room of their own.
PMID 18487990 · PMC7096950 · Nature reviews. Genetics · 2008 · 8 claims · 6 setups
Developing countries can harness human genetic variation to benefit their populations and economies rather than only importing technology from developed nations.
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Genomic diversity and evolution of Mycobacterium ulcerans revealed by next-generation sequencing.
PMID 19806175 · PMC2736377 · PLoS pathogens · 2009 · 8 claims · 6 setups
Genome sequencing of three M. ulcerans strains (NM20/02, NM31/04, Jp8756) identified thousands of SNPs relative to reference strain Agy99
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Has reproduction · 66
Integrative bioinformatics and artificial intelligence analyses of transcriptomics data identified genes associated with major depressive disorders including NRG1.
PMID 37583471 · PMC10423927 · Neurobiology of stress · 2023 · 7 claims · 5 setups
Differentially expressed genes in MDD patients are enriched in immune response, inflammatory response, neurodegeneration, and cerebellar atrophy pathways.