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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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
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.
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Validating discovered Cis-acting regulatory genetic variants: application of an allele specific expression approach to HapMap populations.
PMID 19116668 · PMC2605564 · PloS one · 2008 · 7 claims · 6 setups
ASE is more robust than total gene expression approaches to environmental variation and trans-acting genetic factors, giving a cleaner representation of cis-acting effects.
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Identification of genomic regions contributing to etoposide-induced cytotoxicity.
PMID 19089452 · PMC2714550 · Human genetics · 2009 · 7 claims · 6 setups
Etoposide-induced cytotoxicity in CEPH lymphoblastoid cell lines is heritable, with genetics explaining 17-25% of variation
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Development of animal models to test the fundamental basis of gene-environment interactions.
PMID 19037209 · PMC2703424 · Obesity (Silver Spring, Md.) · 2008 · 8 claims · 8 setups
Selective breeding for low and high intrinsic aerobic treadmill running capacity produced divergent rat lines (LCR and HCR) that contrast in propensity for complex disease
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Frameshift mutations in coding repeats of protein tyrosine phosphatase genes in colorectal tumors with microsatellite instability.
PMID 19000305 · PMC2586028 · BMC cancer · 2008 · 7 claims · 6 setups
16 PTP candidate genes containing coding mononucleotide repeats (cMNR) of at least 7 units were identified via bioinformatic analysis and screened in MSI-H cell lines, cancers, and adenomas
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Increased cyclin D1 expression can mediate BRAF inhibitor resistance in BRAF V600E-mutated melanomas.
PMID 18790768 · PMC2651569 · Molecular cancer therapeutics · 2008 · 8 claims · 6 setups
CDK4 mutations (K22Q, R24C, R24L) alone do not confer resistance to the BRAF inhibitor SB590885
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Determination of Ras-GTP and Ras-GDP in patients with acute myelogenous leukemia (AML), myeloproliferative syndrome (MPS), juvenile myelomonocytic leukemia (JMML), acute lymphocytic leukemia (ALL), and malignant lymphoma: assessment of mutational and indirect activation.
PMID 18784923 · PMC2755762 · Annals of hematology · 2009 · 6 claims · 4 setups
A non-radioactive, enzyme-coupled luminometric assay can quantify Ras activation as %GTP/(GTP+GDP) with high sensitivity (detects 1 fmol GTP)
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Core signaling pathways in human pancreatic cancers revealed by global genomic analyses.
PMID 18772397 · PMC2848990 · Science (New York, N.Y.) · 2008 · 8 claims · 6 setups
Pancreatic cancers contain an average of 63 genetic alterations, the majority of which are point mutations
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Cancer screening: a mathematical model relating secreted blood biomarker levels to tumor sizes.
PMID 18715113 · PMC2517618 · PLoS medicine · 2008 · 8 claims · 4 setups
A linear one-compartment mathematical model can relate secreted blood tumor biomarker levels to tumor burden/size at steady state
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Integrative analysis of RUNX1 downstream pathways and target genes.
PMID 18671852 · PMC2529319 · BMC genomics · 2008 · 7 claims · 8 setups
Integrating gene expression profiles from three independent RUNX1 perturbation platforms (FPD-AML patient cell lines, RUNX1/CBFβ overexpression in HeLa cells, Runx1 knockout mouse embryos) identifies RUNX1-regulated genes and downstream pathways
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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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CHD5, a tumor suppressor gene deleted from 1p36.31 in neuroblastomas.
PMID 18577749 · PMC2483574 · Journal of the National Cancer Institute · 2008 · 7 claims · 8 setups
CHD5 promoter is highly methylated in neuroblastoma cell lines with 1p deletion and absent CHD5 expression (NLF, IMR5)
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A simple and robust method for connecting small-molecule drugs using gene-expression signatures.
PMID 18518950 · PMC2464610 · BMC bioinformatics · 2008 · 8 claims · 4 setups
A new method for building reference gene-expression profiles and scoring/testing connections improves on the original Connectivity Map by enabling statistical significance testing of connections.
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Convergence of mutation and epigenetic alterations identifies common genes in cancer that predict for poor prognosis.
PMID 18507500 · PMC2429944 · PLoS medicine · 2008 · 7 claims · 7 setups
At least 36 of the 189 newly mutated CAN genes are targets of promoter CpG island hypermethylation, often in both colon and breast cancer cell lines
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BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression.
PMID 18497862 · PMC2375115 · PLoS genetics · 2008 · 8 claims · 6 setups
BRCA1 and BRCA2 pathogenic mutation carriers have similar post-irradiation LCL gene expression profiles to each other, more so than to BRCAX samples without an LCS variant
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Direct resequencing of the complete ERBB2 coding sequence reveals an absence of activating mutations in ERBB2 amplified breast cancer.
PMID 18418848 · PMC6668724 · Genes, chromosomes & cancer · 2008 · 6 claims · 5 setups
Emulsion PCR combined with picotiter plate pyrosequencing (454 sequencing) enables high-resolution, high-throughput detection of low-frequency sequence variants among the many individual copies of an amplified gene.
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Characterization of novel isoforms and evaluation of SNF2L/SMARCA1 as a candidate gene for X-linked mental retardation in 12 families linked to Xq25-26.
PMID 18302774 · PMC2266716 · BMC medical genetics · 2008 · 8 claims · 4 setups
The SNF2L gene spans 77 kb and is encoded by 25 exons that undergo alternative splicing to generate multiple distinct transcripts.
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Functional epigenomics approach to identify methylated candidate tumour suppressor genes in renal cell carcinoma.
PMID 18195710 · PMC2361461 · British journal of cancer · 2008 · 8 claims · 4 setups
HAI-2/SPINT2 was previously identified as a novel epigenetically inactivated candidate RCC tumour suppressor gene
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An integrative approach to reveal driver gene fusions from paired-end sequencing data in cancer.
PMID 19881495 · PMC3086882 · Nature biotechnology · 2009 · 8 claims · 8 setups
A 'concept signature' (ConSig) score algorithm ranks genes by association with molecular concepts characteristic of fusion or mutation cancer genes, nominating biologically important fusions from large candidate sets.
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Hypomethylation and expression of BEX2, IGSF4 and TIMP3 indicative of MLL translocations in acute myeloid leukemia.
PMID 19835597 · PMC2770485 · Molecular cancer · 2009 · 8 claims · 8 setups
MLL-mutant (MLL mu) AML cell lines show significantly lower TSG promoter methylation than MLL wild-type (MLL wt) AML cell lines