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).

• AI-assisted discovery of an ethnicity-influenced driver of cell transformation in esophageal and gastroesophageal junction adenocarcinomas.

  PMID 36134663 · PMC9675486 · JCI insight · 2022 · 8 claims · 8 setups

  Has reproduction · 84

  An AI-guided Boolean network approach (BoNE) models transcriptomic continuum states of normal esophagus, BE, and EAC to derive classifier gene signatures

  gene keratinocyte-derived ffpe spt6-depleted boolean rna-seq immunohistochemistry

• Congenital nephrogenic diabetes insipidus presented with bilateral hydronephrosis: genetic analysis of V2R gene mutations.

  PMID 16502494 · PMC2687569 · Yonsei medical journal · 2006 · 8 claims · 6 setups

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  Two patients with congenital nephrogenic diabetes insipidus (NDI) presented with severe bilateral hydronephrosis, megaureter, and a distended bladder in the absence of any urinary tract obstruction.

  patients genomic fluid abdominal blood

• Analysis and visualization of chromosomal abnormalities in SNP data with SNPscan.

  PMID 16420694 · PMC1382255 · BMC bioinformatics · 2006 · 8 claims · 8 setups

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  SNPscan is a web-accessible tool that displays SNP copy number, genotype call, and LOH p-value data together in a single plot per sample

  lymphoblastoid skin ceph genomic snp array pcr

• Two cases of isolated diffuse mesangial sclerosis with WT1 mutations.

  PMID 16479084 · PMC2733967 · Journal of Korean medical science · 2006 · 8 claims · 7 setups

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  Two female infants with isolated diffuse mesangial sclerosis (IDMS) and early-onset end-stage renal failure carried heterozygous WT1 mutations (exon 8 366Arg>His; exon 9 396Asp>Tyr)

  genomic kidney blood kidneys direct parental renal

• Integrating genomic based information into clinical warfarin (Coumadin) management: an illustrative case report.

  PMID 18763667 · PMC3696193 · Connecticut medicine · 2008 · 8 claims · 6 setups

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  Combined CYP2C9 and VKORC1 genotype can explain up to 45% of warfarin dose variability

  genomic edta plasma cardiac genotyping extraction inr

• Resequencing of genes for transforming growth factor beta1 (TGFB1) type 1 and 2 receptors (TGFBR1, TGFBR2), and association analysis of variants with diabetic nephropathy.

  PMID 17319955 · PMC1808054 · BMC medical genetics · 2007 · 7 claims · 7 setups

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  TGFβ1 is a crucial mediator in the pathogenesis of diabetic nephropathy, promoting renal hypertrophy and extracellular matrix accumulation.

  genomic healthy irish case mutation direct taqman

• Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2.

  PMID 10188893 · PMC2362698 · British journal of cancer · 1999 · 7 claims · 7 setups

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  Presence of at least one ovarian cancer case in a small family strongly predicts finding a BRCA1 or BRCA2 mutation.

  genomic pcr family truncation pcr multiplex

• Systematic mutation analysis of KIAA0767 and KIAA1646 in chromosome 22q-linked periodic catatonia.

  PMID 16225677 · PMC1274336 · BMC psychiatry · 2005 · 8 claims · 3 setups

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  Systematic mutation screening of KIAA0767 and KIAA1646 was performed in chromosome 22q-linked periodic catatonia pedigrees

  genomic unrelated systematic case-control

• Single nucleotide polymorphisms of the APC gene and colorectal cancer risk: a case-control study in Taiwan.

  PMID 16569251 · PMC1488868 · BMC cancer · 2006 · 7 claims · 4 setups

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  Three novel APC germline mutations were identified in Taiwanese subjects: a frameshift deletion at codon 460 (g.1378delG), and two missense substitutions p.V1125A and p.S1126R

  genomic taiwanese dhplc pcr sanger

• Variants in the estrogen receptor alpha gene and its mRNA contribute to risk for schizophrenia.

  PMID 18424448 · PMC2465798 · Human molecular genetics · 2008 · 8 claims · 8 setups

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  Genotype CC (rs2234693/PvuII) and C-allele-containing haplotypes in ESR1 intron 1 are more frequent in African American schizophrenics than controls

  genomic postmortem nimhgi esr1 targeted case-control family-based

• Decision forest analysis of 61 single nucleotide polymorphisms in a case-control study of esophageal cancer; a novel method.

  PMID 16026601 · PMC1637030 · BMC bioinformatics · 2005 · 8 claims · 2 setups

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  DF-SNPs, a novel adaptation of the Decision Forest method, can classify esophageal cancer cases vs. controls based on SNP genotype data with high concordance, sensitivity, and specificity.

  genomic snp high-throughput decision

• Two novel missense mutations in the myostatin gene identified in Japanese patients with Duchenne muscular dystrophy.

  PMID 17428346 · PMC1855920 · BMC medical genetics · 2007 · 7 claims · 5 setups

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  Two novel missense mutations in the myostatin gene (p.95D>H and p.156L>I) were identified in Japanese DMD patients

  genomic pcr elbow peripheral pcr subcloning gel

• Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes.

  PMID 18648522 · PMC2480479 · Molecular vision · 2008 · 8 claims · 4 setups

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  A rare CHX10 missense variant (c.728G>A, Gly243Asp) was identified in one PACG patient and absent in 215 controls, and is a possible disease-causing variant

  genomic same chx10 pacg pcr case-control cross-species

• Frequency of single nucleotide polymorphisms in NOD1 gene of ulcerative colitis patients: a case-control study in the Indian population.

  PMID 19723304 · PMC2748065 · BMC medical genetics · 2009 · 7 claims · 4 setups

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  Three NOD1 Exon 6 SNPs (W219R, L349P, L370R) show statistically significant association with ulcerative colitis compared to controls

  genomic pcr patients dhplc cloning pcr-rflp

• snpQT: flexible, reproducible, and comprehensive quality control and imputation of genomic data.

  PMID 34900230 · PMC8637247 · F1000Research · 2021 · 8 claims · 4 setups

  Has reproduction · 67

  snpQT is a scalable, stand-alone software pipeline using nextflow and BioContainers for comprehensive, reproducible, interactive QC of human genomic data.

  synthetic amyotrophic user snp-array gwas population

• ABO exon and intron analysis in individuals with the AweakB phenotype reveals a novel O1v-A2 hybrid allele that causes four missense mutations in the A transferase.

  PMID 14617382 · PMC305365 · BMC genetics · 2003 · 8 claims · 7 setups

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  A novel O1v-A2 hybrid allele, containing four missense mutations, causes the A weak B phenotype in five individuals of African descent

  genomic red computational abo sequencing blood

• 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

• Dinucleotide repeat polymorphism in Fms-like tyrosine kinase-1 (Flt-1) gene is not associated with preeclampsia.

  PMID 18631405 · PMC2496902 · BMC medical genetics · 2008 · 7 claims · 2 setups

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  The Flt-1 d(TG)n repeat polymorphism is not associated with the development of preeclampsia in Korean pregnant women

  genomic same pcr clinical

• No association of factor XIII Val34Leu polymorphism with primary intracerebral hemorrhage and healthy controls in Korean population.

  PMID 11961312 · PMC3054847 · Journal of Korean medical science · 2002 · 5 claims · 4 setups

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  FXIII Val34Leu polymorphism is absent or rare in both PICH patients and healthy controls among Koreans

  genomic pcr randomly pich pcr single-stranded direct

• Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort.

  PMID 16824219 · PMC1534050 · BMC neurology · 2006 · 7 claims · 5 setups

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  The C282Y variant allele of HFE is significantly overrepresented in PD patients compared to controls, suggesting it confers higher risk for PD

  genomic same pooled pcr-rflp pcr-based cross-tabulation