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).

• F-SNP: computationally predicted functional SNPs for disease association studies.

  PMID 17986460 · PMC2238878 · Nucleic acids research · 2008 · 6 claims · 8 setups

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  F-SNP is a database integrating functional effect predictions for SNPs from 16 bioinformatics tools/databases across four categories: splicing, transcription, translation, and post-translation

  genome protein-coding genomic genome-wide non-synonymous exonic nonsense

• SNP@Promoter: a database of human SNPs (single nucleotide polymorphisms) within the putative promoter regions.

  PMID 18315851 · PMC2259403 · BMC bioinformatics · 2008 · 8 claims · 4 setups

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  SNP@Promoter is a database of human SNPs within putative promoter regions and predicted transcription factor binding sites

  genome predicted target computational snp evolutionary

• Malaria severity and human nitric oxide synthase type 2 (NOS2) promoter haplotypes.

  PMID 19859740 · PMC2939908 · Human genetics · 2010 · 7 claims · 7 setups

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  NOS2 promoter haplotypes are not consistently associated with malaria severity or malarial anemia across three independent Tanzanian study populations

  tanzanian a549 muheza-tanga sscp pcr restriction

• The distribution of SNPs in human gene regulatory regions.

  PMID 16209714 · PMC1260019 · BMC genomics · 2005 · 8 claims · 6 setups

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  SNPs occur with higher density closer to the transcriptional start site within gene promoter regions than in further upstream regions

  gene mammalian promoter experimentally genome-wide computational binding

• 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

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  Resequencing 81 candidate osteoporosis genes in 24 Koreans identified 942 variants (888 SNPs, 43 indels, 11 microsatellites)

  genomic sequenced korean common sanger sequence population

• Polymorphism screening and haplotype analysis of the tryptophan hydroxylase gene (TPH1) and association with bipolar affective disorder in Taiwan.

  PMID 15799788 · PMC1079843 · BMC medical genetics · 2005 · 8 claims · 7 setups

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  Systematic screening of TPH1 exons and promoter region in Taiwanese Han identified five sequence variants: A-1067G, G-347T, T3804A, C27224T, A27237G.

  taiwanese bpd bess arms multiplex

• The pharmacogenomics of membrane transporters project: research at the interface of genomics and transporter pharmacology.

  PMID 19940846 · PMC2923224 · Clinical pharmacology and therapeutics · 2010 · 8 claims · 8 setups

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  PMT identified sequence variants in 129 membrane transporter genes in the SLC and ABC superfamilies, discovering over 3100 SNPs

  sophie mammalian xenopus lymphoblastoid resequencing cellular heterologous

• A 14-bp motif in the KIT active promoter region is critical for melanin accumulation in yaks, mice, and humans.

  PMID 40629379 · PMC12239316 · BMC biology · 2025 · 8 claims · 7 setups

  Has reproduction · 54

  A 14-bp deletion in the KIT gene promoter region is associated with the all-white phenotype in yaks, identified via GWAS

  domestic re-sampled hek293t yak whole-genome pcr dual-luciferase

• Sequence variation and linkage disequilibrium in the GABA transporter-1 gene (SLC6A1) in five populations: implications for pharmacogenetic research.

  PMID 17941974 · PMC2175509 · BMC genetics · 2007 · 8 claims · 7 setups

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  SLC6A1 shows low levels of LD and an absence of major LD blocks across all five populations studied

  african-american thai same study sanger snp genotyping

• Mutation analysis of the MSMB gene in familial prostate cancer.

  PMID 19997100 · PMC2816656 · British journal of cancer · 2010 · 8 claims · 5 setups

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  No deleterious mutations were found in the MSMB coding region in 192 familial prostate cancer cases

  germline blood 161-nt genotype sanger taqman transcription

• 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

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  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)

  genomic case-control nramp1 type sanger snp microsatellite

• Bench-to-bedside review: fulfilling promises of the Human Genome Project.

  PMID 12133180 · PMC137447 · Critical care (London, England) · 2002 · 8 claims · 4 setups

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  Most common diseases and many drug responses are influenced by inherited genetic variation

  haemophilus genome septic genomic whole-genome snp large-scale

• Genetic variation in PARL influences mitochondrial content.

  PMID 19862556 · PMC2829432 · Human genetics · 2010 · 7 claims · 5 setups

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  PARL is a key regulator of mitochondrial integrity and function and plays a role in cellular apoptosis

  genomic nuclear parl pcr snp real-time

• PRKCA and multiple sclerosis: association in two independent populations.

  PMID 16596167 · PMC1420678 · PLoS genetics · 2006 · 8 claims · 8 setups

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  PRKCA (protein kinase C alpha) on 17q24 is associated with MS in Finnish families

  finnish canadian unrelated blood snp dense multipoint

• Resequencing PNMT in European hypertensive and normotensive individuals: no common susceptibilily variants for hypertension and purifying selection on intron 1.

  PMID 17645789 · PMC1947951 · BMC medical genetics · 2007 · 7 claims · 7 setups

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  Resequencing of PNMT found no common susceptibility variants that distinguish hypertensive from normotensive individuals

  genomic pnmt promoter pcr population haplotype

• Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells.

  PMID 17267408 · PMC1865061 · Nucleic acids research · 2007 · 6 claims · 6 setups

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  Measuring allelic imbalance (AI) of two SNP alleles within the same sample is an effective approach for identifying cis-acting rSNPs, since each allele serves as an internal control for the other.

  tumor promoter hela cdna bead tag-microarray

• A variant of the SLC10A2 gene encoding the apical sodium-dependent bile acid transporter is a risk factor for gallstone disease.

  PMID 19823678 · PMC2757911 · PloS one · 2009 · 6 claims · 4 setups

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  SLC10A2 is a novel susceptibility gene for cholelithiasis in humans

  genomic pooled sanger maldi-tof genotype-phenotype

• miRGen 2.0: a database of microRNA genomic information and regulation.

  PMID 19850714 · PMC2808909 · Nucleic acids research · 2010 · 7 claims · 6 setups

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  miRGen 2.0 is a database providing comprehensive information about the genomic position of human and mouse microRNA coding transcripts and their regulation by transcription factors

  lung organ malme embryonic polii small nucleosome

• An integrated database-pipeline system for studying single nucleotide polymorphisms and diseases.

  PMID 19091018 · PMC2638159 · BMC bioinformatics · 2008 · 6 claims · 5 setups

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  Existing SNP/disease databases are fragmented; no combined resource widely supports gene-, SNP-, and disease-related information together

  private disease uniprot snps database controlled sequence

• Sequencing and genotypic analysis of the triosephosphate isomerase (TPI1) locus in a large sample of long-lived Germans.

  PMID 18510744 · PMC2424074 · BMC genetics · 2008 · 7 claims · 4 setups

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  Sequencing the TPI1 locus in 357 German long-lived individuals identified 17 polymorphisms, 15 of which were rare and previously unknown

  blood-derived cohort pcr snplex taqman