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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SNPs in cancer research and treatment.
PMID 14970847 · PMC2410167 · British journal of cancer · 2004 · 8 claims · 8 setups
SNPs and haplotype-tagging SNPs (ht-SNPs) provide a resource for investigating genetic contributions to cancer susceptibility and outcome while reducing genotyping burden versus testing every SNP
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Surfactant protein B gene variations enhance susceptibility to squamous cell carcinoma of the lung in German patients.
PMID 12107845 · PMC2376109 · British journal of cancer · 2002 · 8 claims · 1 setups
The SP-B intron 4 gene variant is significantly more frequent in squamous cell lung carcinoma (SCC) patients (25.0%) than in matched controls, OR=3.2, P=0.016
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The impact of new research technologies on our understanding of environmental causes of disease: the concept of clinical vulnerability.
PMID 19948053 · PMC2793242 · Environmental health : a global access science source · 2009 · 8 claims · 8 setups
GWAS-identified genetic variants confer only modest relative risks (1.15-1.5), comparable in magnitude to weak/contested environmental exposures
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Relationship between cyclooxygenase 8473T>C polymorphism and the risk of lung cancer: a case-control study.
PMID 16542464 · PMC1468421 · BMC cancer · 2006 · 8 claims · 4 setups
The COX-2 8473T>C genotype distribution did not differ significantly between overall lung cancer cases and controls.
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A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.
PMID 18625664 · PMC2692309 · Pediatrics · 2008 · 8 claims · 8 setups
NPD type B involves multisystem disease including hepatosplenomegaly, interstitial lung disease, dyslipidemia, thrombocytopenia, and growth delay
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Molecular genetic analysis of the cytochrome P450-debrisoquine hydroxylase locus and association with cancer susceptibility.
PMID 1486838 · PMC1519624 · Environmental health perspectives · 1992 · 7 claims · 8 setups
A PCR-RFLP DNA-based assay targeting the intron 3/exon 4 G-to-A transition can identify approximately 70-80% of CYP2D6 poor metabolizers (PMs) without drug phenotyping.
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Two-round coamplification at lower denaturation temperature-PCR (COLD-PCR)-based sanger sequencing identifies a novel spectrum of low-level mutations in lung adenocarcinoma.
PMID 19760750 · PMC2784016 · Human mutation · 2009 · 8 claims · 6 setups
Two-round fast COLD-PCR followed by Sanger sequencing detects TP53 mutations at abundances as low as ~1%, below the sensitivity of conventional Sanger sequencing (~20-25%)
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Use of genomic data in risk assessment.
PMID 11983054 · PMC139345 · Genome biology · 2002 · 8 claims · 4 setups
New genomic technologies (CGH, SNP analysis, restriction landmark genome scanning, spectral karyotyping, transcript profiling) can be applied to improve risk assessment accuracy
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Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.
PMID 15447792 · PMC523852 · BMC medical genetics · 2004 · 8 claims · 8 setups
TMPRSS3 mutations were identified in four additional Pakistani families with recessive, nonsyndromic congenital deafness co-segregating with DFNB8/B10 haplotypes
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Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing.
PMID 18438408 · PMC2705838 · Nature genetics · 2008 · 8 claims · 8 setups
Massively parallel paired-end sequencing can characterize somatic and germline structural rearrangements to base-pair resolution across a whole cancer genome
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Social and ethical implications of genomics, race, ethnicity, and health inequities.
PMID 19000599 · PMC2892396 · Seminars in oncology nursing · 2008 · 8 claims · 5 setups
Race and ethnicity are increasingly viewed as genetic surrogates for predicting disease risk and treatment response, though directly assessing genomic and environmental factors is more accurate.
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The field of tissue injury in the lung and airway.
PMID 19138985 · PMC2705781 · Cancer prevention research (Philadelphia, Pa.) · 2008 · 8 claims · 8 setups
Field cancerization and the field of injury reflect molecular changes (genomic, epigenomic, transcriptomic, proteomic) present in histologically normal-appearing tissue distant from and independent of a tumor, throughout the carcinogen-exposed respiratory epithelium
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Genetic and epigenetic analyses of MBD3 in colon and lung cancer.
PMID 15138480 · PMC2410281 · British journal of cancer · 2004 · 7 claims · 5 setups
MBD3 is not a major target of genetic or epigenetic alteration in colon and lung cancer
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Performance of mitochondrial DNA mutations detecting early stage cancer.
PMID 18834532 · PMC2572633 · BMC cancer · 2008 · 8 claims · 6 setups
The Affymetrix MitoChip resequencing array is a high-throughput, higher-resolution alternative to capillary sequencing for detecting mtDNA point mutations and heteroplasmy in clinical specimens.
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Methods for genome-wide analysis of DNA methylation in intestinal tumors.
PMID 19854208 · PMC2891386 · Mutation research · 2010 · 8 claims · 8 setups
Aberrant DNA methylation, including CpG island hypermethylation of tumor suppressors and genome-wide hypomethylation, is strongly linked to the origin and progression of colorectal cancer.
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Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion.
PMID 19097825 · PMC2692687 · Clinical immunology (Orlando, Fla.) · 2009 · 8 claims · 7 setups
CORO1A deficiency, caused by a paternal 2bp frameshift mutation combined with a maternal de novo 600kb deletion at chromosome 16p11.2, is the molecular cause of this patient's T-B+NK+ SCID
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Genetics and proteomics: deciphering gene association studies in critical illness.
PMID 16934133 · PMC1750993 · Critical care (London, England) · 2006 · 8 claims · 8 setups
Most critical illnesses are complex traits (multifactorial), unlike single-gene Mendelian diseases.
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BAC to the future! or oligonucleotides: a perspective for micro array comparative genomic hybridization (array CGH).
PMID 16439806 · PMC1356528 · Nucleic acids research · 2006 · 8 claims · 7 setups
oaCGH, not BAC CGH arrays, is the platform that will prevail in the future
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Malaria severity and human nitric oxide synthase type 2 (NOS2) promoter haplotypes.
PMID 19859740 · PMC2939908 · Human genetics · 2010 · 7 claims · 7 setups
NOS2 promoter haplotypes are not consistently associated with malaria severity or malarial anemia across three independent Tanzanian study populations