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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Mutation analysis of 24 known cancer genes in the NCI-60 cell line set.
PMID 17088437 · PMC2705832 · Molecular cancer therapeutics · 2006 · 8 claims · 3 setups
137 oncogenic mutations were identified across 14 of 24 screened cancer genes (APC, BRAF, CDKN2A, CTNNB1, HRAS, KRAS, NRAS, SMAD4, PIK3CA, PTEN, RB1, STK11, TP53, VHL) in the NCI-60 panel
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Expression analysis of candidate breast tumour suppressor genes on chromosome 16q.
PMID 16280054 · PMC1410740 · Breast cancer research : BCR · 2005 · 8 claims · 7 setups
None of the six candidate genes (CBFA2T3, TERF2, TERF2IP, FBXL8, LRRC29, FANCA) showed inactivating mutations or expression differences clearly associated with 16q LOH status
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Expression and mutation analysis of the discoidin domain receptors 1 and 2 in non-small cell lung carcinoma.
PMID 17299390 · PMC2360060 · British journal of cancer · 2007 · 8 claims · 6 setups
DDR1 is significantly upregulated in NSCLC tumour tissue compared with matched normal lung tissue
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Array-based analysis of genomic DNA methylation patterns of the tumour suppressor gene p16INK4A promoter in colon carcinoma cell lines.
PMID 15860770 · PMC1087791 · Nucleic acids research · 2005 · 8 claims · 4 setups
A Geniom One-synthesized oligonucleotide microarray can determine the methylation status of individual CpG dinucleotides in parallel, combining high throughput with single-base resolution
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Has reproduction
Predicting favorable landing pads for targeted integrations in Chinese hamster ovary cell lines by learning stability characteristics from random transgene integrations.
PMID 33304461 · PMC7710658 · Computational and structural biotechnology journal · 2020 · 7 claims · 6 setups
Expression stability in CHO cell lines is controlled at three levels: choice of integration site, integrity/concatemerization pattern of the transgene, and stress-related cellular processes.
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Prevalence and functional analysis of sequence variants in the ATR checkpoint mediator Claspin.
PMID 19737971 · PMC2994259 · Molecular cancer research : MCR · 2009 · 8 claims · 8 setups
CLSPN is a mediator protein essential for the ATR- and CHK1-dependent checkpoint response to replicative stress or single-stranded DNA
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CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation.
PMID 11556834 · PMC2375081 · British journal of cancer · 2001 · 7 claims · 6 setups
Germ line CDKN2A mutations were found in 5 of 15 (33.3%) Italian melanoma-prone families, including one novel mutation (P48T) and three known pathogenic mutations (R24P, G101W, N71S)
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Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability.
PMID 17214878 · PMC1779775 · BMC genomics · 2007 · 8 claims · 7 setups
The proportion of subjects lacking DEFA3 varies significantly by population, from 10% to 37%
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Ligase detection reaction for the analysis of point mutations using free-solution conjugate electrophoresis in a polymer microfluidic device.
PMID 19053073 · PMC3010182 · Electrophoresis · 2008 · 8 claims · 7 setups
LDR-FSCE (combining LDR with free-solution conjugate electrophoresis) enables single-base resolution separation of LDR products without a polymer sieving matrix
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Detecting imbalanced expression of SNP alleles by minisequencing on microarrays.
PMID 15500681 · PMC529269 · BMC biotechnology · 2004 · 8 claims · 7 setups
Both microarray minisequencing formats accurately quantify SNP allele ratios, with R2 > 0.95 for the majority of regression lines
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High frequency of the IVS2-2A>G DNA sequence variation in SLC26A5, encoding the cochlear motor protein prestin, precludes its involvement in hereditary hearing loss.
PMID 16086836 · PMC1190179 · BMC medical genetics · 2005 · 8 claims · 6 setups
IVS2-2A>G allele frequency does not differ significantly between hearing-impaired cases and controls among Hispanics and Caucasians (p=0.45)
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Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P).
PMID 16887033 · PMC1559599 · BMC medical genetics · 2006 · 6 claims · 5 setups
A multiplexed suspension bead array (Luminex) assay was developed to genotype 8 Ashkenazi-prevalent disease alleles including GBA c.1448T>C
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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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Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies.
PMID 17953491 · PMC2039766 · PLoS genetics · 2007 · 8 claims · 5 setups
CNVs are not easily tagged by SNPs and often fall in genomic regions poorly covered by whole-genome SNP arrays or not genotyped by HapMap, so current GWASs have largely missed their contribution to complex disorders.
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Recovery of bisulfite-converted genomic sequences in the methylation-sensitive QPCR.
PMID 17439964 · PMC1888819 · Nucleic acids research · 2007 · 8 claims · 7 setups
Bisulfite treatment causes DNA strand breakage (via abasic site formation and beta-elimination) in addition to cytosine deamination.
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Additional EFNB1 mutations in craniofrontonasal syndrome.
PMID 18627045 · PMC2774847 · American journal of medical genetics. Part A · 2008 · 8 claims · 4 setups
Loss-of-function mutations in EFNB1 (Xq13.1) are the cause of CFNS in the majority of patients
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Analysis of X chromosome inactivation in autism spectrum disorders.
PMID 18361425 · PMC4867005 · American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2008 · 6 claims · 5 setups
No significant excess of skewed XCI was found in mothers of children with ASD or in affected girls compared to controls
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A genome-wide screen for copy number alterations in Aicardi syndrome.
PMID 19760649 · PMC3640635 · American journal of medical genetics. Part A · 2009 · 7 claims · 4 setups
Aicardi syndrome is thought to result from heterozygous defects in an essential X-linked gene, or from a sex-limited autosomal gene defect, due to its occurrence almost exclusively in females and in 47,XXY males.
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Discovery-based science education: functional genomic dissection in Drosophila by undergraduate researchers.
PMID 15719063 · PMC548953 · PLoS biology · 2005 · 8 claims · 3 setups
Discovery-based genomics research can be integrated into an undergraduate curriculum, engaging large numbers of students in professional-quality research without compromising didactic training
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The personal genome project.
PMID 16729065 · PMC1681452 · Molecular systems biology · 2005 · 8 claims · 1 setups
A Personal Genome Project (PGP) should be established as the natural successor to the Human Genome Project, providing integrated genome and phenome data for genetically diverse subjects.