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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In silico and in vitro comparative analysis to select, validate and test SNPs for human identification.
PMID 18076761 · PMC2222643 · BMC genomics · 2007 · 8 claims · 7 setups
A panel of 24 SNPs was selected and validated for human identification using 1,040 unrelated samples from three populations (Italian, Benin Gulf, Mongolian)
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Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish.
PMID 16515697 · PMC1448207 · BMC medical genetics · 2006 · 8 claims · 7 setups
CMS compares IBS allele/genotype sharing between distantly related (beyond grandparental) affected and unaffected individuals from founder populations to detect disease loci while reducing confounding from population stratification and genetic heterogeneity.
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Function2Gene: a gene selection tool to increase the power of genetic association studies by utilizing public databases and expert knowledge.
PMID 18631403 · PMC2500032 · BMC bioinformatics · 2008 · 6 claims · 5 setups
Function2Gene is a set of Perl programs that queries public databases (NCBI, GeneCards, Harvester, with Uniprot/Ensembl also supported) using expert-selected keywords to rank genes by prior probability of disease association.
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Whole genome distribution and ethnic differentiation of copy number variation in Caucasian and Asian populations.
PMID 19956714 · PMC2776354 · PloS one · 2009 · 8 claims · 5 setups
3,019 CNVs (2,381 autosomal, 638 X chromosome) were identified across 985 Caucasian and 692 Asian individuals using the Affymetrix 500K array
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Haplotype analysis of common variants in the BRCA1 gene and risk of sporadic breast cancer.
PMID 15743496 · PMC1064127 · Breast cancer research : BCR · 2005 · 7 claims · 5 setups
A common BRCA1 haplotype (haplotype 2, C A G G) is associated with a modest increase in sporadic breast cancer risk
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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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Animal models of gene-nutrient interactions.
PMID 19037208 · PMC2703433 · Obesity (Silver Spring, Md.) · 2008 · 8 claims · 5 setups
Mice and rats are well-suited models for human food selection because they share food preferences with humans and are supported by extensive genetic tools (sequenced genome, inbred strains, gene targeting, Cre-lox).
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Assignment of Streptococcus agalactiae isolates to clonal complexes using a small set of single nucleotide polymorphisms.
PMID 18710585 · PMC2533671 · BMC microbiology · 2008 · 7 claims · 6 setups
A four-SNP set (glnA36, glnA429, glcK180, adhP111) identified via the Not-N algorithm plus empirical testing divides GBS into 10 groups concordant with eBURST-defined population structure.
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Sequence determinants of human microsatellite variability.
PMID 20015383 · PMC2806349 · BMC genomics · 2009 · 6 claims · 4 setups
Mean and maximum number of repeats across individuals are positively correlated with heterozygosity
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Haplotype frequencies at the DRD2 locus in populations of the East European Plain.
PMID 19793394 · PMC2765450 · BMC genetics · 2009 · 8 claims · 4 setups
The three-locus TaqI B-TaqI D-TaqI A haplotype at DRD2 constitutes a powerful genetic marker reflecting the most ancient dispersal of anatomically modern humans
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Public health genomics approach to type 2 diabetes.
PMID 18971439 · PMC2570384 · Diabetes · 2008 · 7 claims · 3 setups
Combining GWAS-discovered genetic variants provides only weak predictive ability for type 2 diabetes and adds little beyond established clinical risk factors (age, sex, BMI).
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SOP3v2: web-based selection of oligonucleotide primer trios for genotyping of human and mouse polymorphisms.
PMID 15980532 · PMC1160243 · Nucleic acids research · 2005 · 7 claims · 3 setups
SOP 3 v2 is a web-based application that outputs recommended forward/reverse PCR primers plus a sequencing primer optimized for sequence-based genotyping of human and mouse polymorphisms
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A comprehensive literature review of haplotyping software and methods for use with unrelated individuals.
PMID 15814067 · PMC3525117 · Human genomics · 2005 · 7 claims · 2 setups
Forty-six haplotyping programs were identified and reviewed, split into 43 designed for individual genotype data and three designed for pooled DNA samples.
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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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SNP selection for genes of iron metabolism in a study of genetic modifiers of hemochromatosis.
PMID 18366708 · PMC2289803 · BMC medical genetics · 2008 · 7 claims · 6 setups
Illumina validation/design scores above 0.6 are not strongly correlated with actual SNP genotyping performance (Gentrain score)
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Identification of novel prognostic markers in cervical intraepithelial neoplasia using LDMAS (LOH Data Management and Analysis Software).
PMID 15673474 · PMC548130 · BMC bioinformatics · 2005 · 8 claims · 3 setups
LDMAS software integrates LOH molecular data with clinico-pathological data for prognostic marker discovery
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Finding disease candidate genes by liquid association.
PMID 17915034 · PMC2246280 · Genome biology · 2007 · 7 claims · 6 setups
LA can detect functionally associated genes that are not directly co-expressed by identifying a mediating gene Z whose expression level changes the correlation between X and Y.
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Genome-Wide Survey and Development of the First Microsatellite Markers Database (AnCorDB) in Anemone coronaria L.
PMID 35328546 · PMC8949970 · International journal of molecular sciences · 2022 · 8 claims · 8 setups
Generated the first draft genome assembly of A. coronaria by Illumina sequencing a haploid androgenetic plant
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Lack of involvement of known DNA methyltransferases in familial hydatidiform mole implies the involvement of other factors in establishment of imprinting in the human female germline.
PMID 12546714 · PMC149328 · BMC genetics · 2003 · 8 claims · 5 setups
A human oocyte-specific DNMT1 isoform (DNMT1o), driven by a novel upstream exon 1o, is expressed in mature oocytes and early embryos but not in somatic tissues
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Polymorphism discovery and association analyses of the interferon genes in type 1 diabetes.
PMID 16504056 · PMC1402321 · BMC genetics · 2006 · 7 claims · 8 setups
No statistical evidence of a major association between T1D and any of the interferon or interferon-related genes tested (IFNA cluster, IFNB1, IFNW1, IFNG, ICSBP1)