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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Stable patterns of gene expression regulating carbohydrate metabolism determined by geographic ancestry.
PMID 20016837 · PMC2790609 · PloS one · 2009 · 8 claims · 6 setups
151 'geo-ancestral genes' were identified that are both differentially expressed between AA and CAU subjects and contain SNPs distinguishing YRI (African) from CEU (European) HapMap populations
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Expoldb: expression linked polymorphism database with inbuilt tools for analysis of expression and simple repeats.
PMID 17038195 · PMC1618849 · BMC genomics · 2006 · 8 claims · 6 setups
EXPOLDB is a novel database integrating human gene expression variability data (including monozygotic twin comparisons) with (TG/CA)n repeat polymorphism information
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Presence of myocilin sequence variants in Japanese patients with open-angle glaucoma.
PMID 18334962 · PMC2268858 · Molecular vision · 2008 · 8 claims · 4 setups
Two MYOC sequence variants were identified in Japanese POAG patients: a novel non-synonymous variant p.Gln297His and a previously reported variant p.Ala363Thr.
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Geographical genomics of human leukocyte gene expression variation in southern Morocco.
PMID 19966804 · PMC2798927 · Nature genetics · 2010 · 8 claims · 8 setups
Gene expression differs substantially between locations (up to 38% of transcripts), driven largely by a rural-versus-urban lifestyle contrast rather than ethnicity or gender.
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A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.
PMID 19728872 · PMC2745377 · BMC medical genetics · 2009 · 8 claims · 7 setups
A novel homozygous missense mutation, c.1922G>A (p.Arg641His), in MANBA was identified in a patient with severe neurological disease featuring pyramidal and cerebellar involvement, a phenotype not previously reported in β-mannosidosis.
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Evaluating the performance of Affymetrix SNP Array 6.0 platform with 400 Japanese individuals.
PMID 18803882 · PMC2566316 · BMC genomics · 2008 · 8 claims · 5 setups
About 20% of the 909,622 SNPs on the SNP Array 6.0 are monomorphic in the Japanese population
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Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis.
PMID 17363414 · PMC2779891 · DNA research : an international journal for rapid publication of reports on genes and genomes · 2007 · 8 claims · 6 setups
High-density oligonucleotide/SNP platforms are superior to the BAC platform for genome-wide detection of copy-number variations smaller than 1 Mb
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Exome sequencing of a multigenerational human pedigree.
PMID 20011588 · PMC2788131 · PloS one · 2009 · 8 claims · 6 setups
Microarray-based exome capture combined with 454 GS FLX NGS is an efficient and reliable method to enrich for chromosomal regions of interest, validated on eight individuals from a three-generation pedigree
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Has reproduction · 63
Creation of a Single Cell RNASeq Meta-Atlas to Define Human Liver Immune Homeostasis.
PMID 34335581 · PMC8322955 · Frontiers in immunology · 2021 · 7 claims · 7 setups
Independent human liver immune scRNA-seq datasets can be combined into an integrated meta-atlas in which all datasets co-cluster, despite differing cell-type proportions between studies.
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Nutrigenetic association of the 5-lipoxygenase gene with myocardial infarction.
PMID 18842779 · PMC3014055 · The American journal of clinical nutrition · 2008 · 8 claims · 4 setups
A significant gene x diet interaction exists between 5-LO promoter short alleles (3,4 repeats) and dietary AA intake in determining MI risk
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Somatic mutations in RET exons 12 and 15 in sporadic medullary thyroid carcinomas: different spectrum of mutations in sporadic type from hereditary type.
PMID 10622534 · PMC5926019 · Japanese journal of cancer research : Gann · 1999 · 8 claims · 3 setups
Novel somatic point mutations and an in-frame deletion were identified in RET exons 12 and 15 in sporadic MTC
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Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts.
PMID 18334953 · PMC2268897 · Molecular vision · 2008 · 8 claims · 6 setups
A G61C (P.G61C) missense mutation in CRYGD causes autosomal dominant congenital coralliform cataracts in this family
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High-resolution array comparative genomic hybridization of single micrometastatic tumor cells.
PMID 18344524 · PMC2367728 · Nucleic acids research · 2008 · 7 claims · 8 setups
A protocol combining PCR-based whole genome amplification with arrays of highly purified BAC clones enables detection of DNA copy number changes in single cells