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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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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Finding signals that regulate alternative splicing in the post-genomic era.
PMID 12429065 · PMC244920 · Genome biology · 2002 · 8 claims · 8 setups
Alternative splicing generates protein and regulatory diversity from a limited number of genes and modulates isoform levels in a cell-context-specific manner
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Ab initio identification of putative human transcription factor binding sites by comparative genomics.
PMID 15865625 · PMC1097714 · BMC bioinformatics · 2005 · 8 claims · 5 setups
An integrated algorithm combining human-mouse genomic comparison, motif overrepresentation, and coregulation filters (GO annotation and microarray coexpression) can identify candidate transcription factor binding sites genome-wide
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Recurrent DNA copy number changes in 1q, 4q, 6q, 9p, 13q, 14q and 22q detected by comparative genomic hybridization in malignant mesothelioma.
PMID 9052404 · PMC2063309 · British journal of cancer · 1997 · 7 claims · 2 setups
This is the first genome-wide screening for DNA sequence gains and losses using CGH in malignant pleural mesothelioma tumours.
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HFE H63D mutation frequency shows an increase in Turkish women with breast cancer.
PMID 16503999 · PMC1402308 · BMC cancer · 2006 · 6 claims · 2 setups
HFE H63D allele frequency is significantly higher in Turkish breast cancer patients (22.2%) than in healthy controls (14%)
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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
Resequencing of PNMT found no common susceptibility variants that distinguish hypertensive from normotensive individuals
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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
The Flt-1 d(TG)n repeat polymorphism is not associated with the development of preeclampsia in Korean pregnant women
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Phenotypic characteristics of colo-rectal cancer in I1307K APC germline mutation carriers compared with sporadic cases.
PMID 11720476 · PMC2375261 · British journal of cancer · 2001 · 8 claims · 5 setups
I1307K APC germline mutation carriers were identified in 28 of 307 (9.1%) unselected Israeli CRC patients
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The (CTG)n polymorphism in the NOTCH4 gene is not associated with schizophrenia in Japanese individuals.
PMID 11407996 · PMC32311 · BMC psychiatry · 2001 · 6 claims · 4 setups
No significant differences in genotype or allele frequencies of the NOTCH4 (CTG)n repeat were found between schizophrenia patients and controls
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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
Resequencing 81 candidate osteoporosis genes in 24 Koreans identified 942 variants (888 SNPs, 43 indels, 11 microsatellites)
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A novel variable number of tandem repeat of the natriuretic peptide precursor B gene's 5'-flanking region is associated with essential hypertension among Japanese females.
PMID 17554401 · PMC1885554 · International journal of medical sciences · 2007 · 8 claims · 6 setups
A novel VNTR polymorphism (TTTC repeat) was discovered at -1241 nucleotides in the 5'-flanking region of NPPB, with 8 alleles ranging from 9 to 19 repeats.
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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
TGFβ1 is a crucial mediator in the pathogenesis of diabetic nephropathy, promoting renal hypertrophy and extracellular matrix accumulation.
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LRRK2 gene G2019S mutation and SNPs [haplotypes] in subtypes of Parkinson's disease.
PMID 18752982 · PMC2761091 · Parkinsonism & related disorders · 2009 · 8 claims · 4 setups
LRRK2 G2019S mutation frequency was 1.56% in total PD, higher in familial PD (3.5%) than sporadic PD (0.3%)
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Catechol-O-methyltransferase (COMT) gene variants: possible association of the Val158Met variant with opiate addiction in Hispanic women.
PMID 18270997 · PMC2909109 · American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2008 · 8 claims · 5 setups
The G/A and A/A genotypes of G472A (Val158Met) are point-wise significantly associated with opiate addiction in Hispanic women but not men (P=0.049)
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Protective effect of paraoxonase 1 gene variant Gln192Arg in age-related macular degeneration.
PMID 20042177 · PMC3026437 · American journal of ophthalmology · 2010 · 6 claims · 4 setups
The Gln192Arg PON1 polymorphism is associated with decreased susceptibility to AMD, particularly wet AMD, indicating a protective effect
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Mutation analysis of the AATF gene in breast cancer families.
PMID 20025740 · PMC2806411 · BMC cancer · 2009 · 6 claims · 6 setups
No AATF sequence alteration identified was predicted to be pathogenic or showed significant association with breast cancer risk
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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
Three NOD1 Exon 6 SNPs (W219R, L349P, L370R) show statistically significant association with ulcerative colitis compared to controls
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A novel, non-functional, COL1A1 polymorphism is not associated with lumbar disk disease in young male Greek subjects unlike that of the Sp1 site.
PMID 18694864 · PMC3124709 · Hormones (Athens, Greece) · 2008 · 5 claims · 3 setups
The COL1A1 3'UTR 4bp insertion polymorphism (A1/A2 alleles) is not associated with LDD in young male Greek subjects
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The homeobox gene CDX2 in colorectal carcinoma: a genetic analysis.
PMID 11161380 · PMC2363702 · British journal of cancer · 2001 · 7 claims · 7 setups
No CDX2 mutations predisposing to sporadic colorectal cancer were identified
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HLA-A gene polymorphism defined by high-resolution sequence-based typing in 161 Northern Chinese Han people.
PMID 15629059 · PMC5172246 · Genomics, proteomics & bioinformatics · 2003 · 7 claims · 5 setups
HLA-A gene shows high polymorphism in the Northern Chinese Han population, with 74 gene types and 36 alleles detected in 161 individuals