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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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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A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family.
PMID 19753316 · PMC2742643 · Molecular vision · 2009 · 8 claims · 6 setups
A novel nonsense mutation (c.614C>A; p.S205X) in exon 1 of GRK1 causes disease in family RP19
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An evaluation of the performance of HapMap SNP data in a Shanghai Chinese population: analyses of allele frequency, linkage disequilibrium pattern and tagging SNPs transferability on chromosome 1q21-q25.
PMID 18302794 · PMC2292209 · BMC genetics · 2008 · 7 claims · 5 setups
Among the four HapMap populations, CHB shows the best correlation with the Shanghai population on allele frequencies, LD, and haplotype frequencies
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The vaginal bacterial communities of Japanese women resemble those of women in other racial groups.
PMID 19912342 · PMC2868947 · FEMS immunology and medical microbiology · 2010 · 7 claims · 5 setups
The types of vaginal bacterial communities found in Japanese women closely resemble those previously found in White and Black North American women.
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Medical sequencing of candidate genes for nonsyndromic cleft lip and palate.
PMID 16327884 · PMC1298935 · PLoS genetics · 2005 · 8 claims · 8 setups
Point mutations in FOXE1, GLI2, JAG2, LHX8, MSX1, MSX2, SATB2, SKI, SPRY2, and TBX10 may be rare causes of isolated CL/P
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HapMap-based study of the 17q21 ERBB2 amplicon in susceptibility to breast cancer.
PMID 17117180 · PMC2360759 · British journal of cancer · 2006 · 6 claims · 5 setups
Common genetic variation (tSNPs and haplotypes) across the 400-kb 17q21 ERBB2 amplicon is not associated with breast cancer risk in British women.
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DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinic-based population with broad ethnic diversity.
PMID 18254956 · PMC2270804 · BMC medical genetics · 2008 · 8 claims · 5 setups
Three LOXL1 SNPs previously associated with pseudoexfoliation in Nordic populations are significantly associated with pseudoexfoliation syndrome and pseudoexfoliation glaucoma in a U.S. ethnically diverse population
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QuickSNP: an automated web server for selection of tagSNPs.
PMID 17517769 · PMC1933212 · Nucleic acids research · 2007 · 7 claims · 3 setups
QuickSNP is a freely available automated web server for selecting tagSNPs from a chromosomal region, genes within a region, or a specified gene list, with a gene-centric selection option
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An efficient method for multi-locus molecular haplotyping.
PMID 17158153 · PMC1802573 · Nucleic acids research · 2007 · 7 claims · 6 setups
A novel molecular haplotyping method using limiting dilution, aliquot pre-screening, and tiling reconstruction can resolve haplotypes spanning many loci over long distances from a single individual's DNA.
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MutDB: update on development of tools for the biochemical analysis of genetic variation.
PMID 17827212 · PMC2238958 · Nucleic acids research · 2008 · 7 claims · 5 setups
MutDB integrates dbSNP and Swiss-Prot genetic variation data with protein structural information, functional disruption prediction scores, and clinical phenotype links (OMIM, dbGAP)
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Comparative genomic analysis of Mycobacterium avium subspecies obtained from multiple host species.
PMID 18366709 · PMC2323391 · BMC genomics · 2008 · 8 claims · 5 setups
Genome diversity among M. avium subspecies is mediated by large sequence polymorphisms (LSPs) commonly associated with mobile genetic elements.
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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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Computational disease gene identification: a concert of methods prioritizes type 2 diabetes and obesity candidate genes.
PMID 16757574 · PMC1475747 · Nucleic acids research · 2006 · 6 claims · 8 setups
Applying seven independent computational disease-gene prioritization methods in concert to 9556 positional candidate genes identifies a prioritized set of likely T2D and obesity candidate genes
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Downregulation of death-associated protein kinase 1 (DAPK1) in chronic lymphocytic leukemia.
PMID 17540169 · PMC4647864 · Cell · 2007 · 8 claims · 13 setups
DAPK1 promoter is epigenetically silenced by DNA methylation in almost all sporadic CLL cases
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Malaria research in the post-genomic era.
PMID 18843360 · PMC2705782 · Nature · 2008 · 8 claims · 7 setups
Genome-dependent methods can partially substitute for forward genetic approaches that are unavailable or limited in malaria parasites.
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PowerBacGWAS: a computational pipeline to perform power calculations for bacterial genome-wide association studies.
PMID 35338232 · PMC8956664 · Communications biology · 2022 · 8 claims · 8 setups
Two computational approaches (sub-sampling and phenotype-simulation) can be implemented to perform power calculations for bacterial GWAS using existing genome collections, packaged as the PowerBacGWAS pipeline