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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Rapid detection of genomic imbalances using micro-arrays consisting of pooled BACs covering all human chromosome arms.
PMID 16221972 · PMC1253841 · Nucleic acids research · 2005 · 8 claims · 6 setups
Reducing array complexity by pooling five BACs per spot (covering a chromosome arm) increases robustness to amplification-related ratio variation compared with single-BAC spotting
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High-throughput molecular analysis in lung cancer: insights into biology and potential clinical applications.
PMID 19648524 · PMC4648268 · The European respiratory journal · 2009 · 8 claims · 8 setups
High-throughput -omics technologies have revolutionised understanding of lung cancer biology and hold promise for personalised management of lung cancer
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A DNA microarray survey of gene expression in normal human tissues.
PMID 15774023 · PMC1088941 · Genome biology · 2005 · 6 claims · 6 setups
Unsupervised hierarchical clustering of gene expression groups normal tissue samples largely according to anatomic location, cellular composition, or physiologic function.
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Editing of hnRNP K protein mRNA in colorectal adenocarcinoma and surrounding mucosa.
PMID 16404425 · PMC2361188 · British journal of cancer · 2006 · 7 claims · 8 setups
A G274A base substitution in hnRNP K mRNA is present in colorectal tumours and surrounding mucosa but absent from corresponding genomic DNA, indicating an RNA editing event rather than a germline polymorphism.
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Absence of somatic alterations of the EB1 gene adenomatous polyposis coli-associated protein in human sporadic colorectal cancers.
PMID 9823979 · PMC2063196 · British journal of cancer · 1998 · 6 claims · 4 setups
No somatic point mutations were found in the entire EB1 coding sequence in sporadic colorectal cancers or adenomas
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Mutation of the nm23 gene, loss of heterozygosity at the nm23 locus and K-ras mutation in ovarian carcinoma: correlation with tumour progression and nm23 gene expression.
PMID 7669582 · PMC2033876 · British journal of cancer · 1995 · 8 claims · 5 setups
A novel missense mutation (TGG→CGG, Trp133→Arg) in nm23-H2 was found in one stage III serous ovarian carcinoma
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X-linked severe combined immunodeficiency syndrome: the first Korean case with gamma c chain gene mutation and subsequent genetic counseling.
PMID 14966353 · PMC2822247 · Journal of Korean medical science · 2004 · 8 claims · 7 setups
The patient's X-SCID is caused by a C690T point mutation in exon 5 of the γc chain gene, producing an R226C amino acid substitution.
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Gene-resolution analysis of DNA copy number variation using oligonucleotide expression microarrays.
PMID 17470268 · PMC1868757 · BMC genomics · 2007 · 8 claims · 7 setups
graCNV uses re-annotated Affymetrix expression microarray probe sets and the WPP algorithm to measure DNA copy number variation at a median resolution of ~17,500 bp without genomic complexity reduction.
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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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Rapid detection of allele loss in colorectal tumours using microsatellites and fluorescent DNA technology.
PMID 8512811 · PMC1968523 · British journal of cancer · 1993 · 6 claims · 3 setups
Fluorescently labelled microsatellite PCR products analysed on an automated DNA sequencer allow rapid, automated quantitation (peak size, height, area) of allele loss, avoiding drawbacks of radioactive RFLP analysis.
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Genomic profiling of CpG methylation and allelic specificity using quantitative high-throughput mass spectrometry: critical evaluation and improvements.
PMID 17855397 · PMC2094090 · Nucleic acids research · 2007 · 8 claims · 5 setups
A new weighted formula that accounts for the number of methylated CpG sites per fragment removes the bias of the original MassCLEAVE™ formula toward higher apparent methylation in fragments with more CpG sites.
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Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.
PMID 19912631 · PMC2780402 · BMC medical genetics · 2009 · 8 claims · 6 setups
Mutations in RAG1/2 and DCLRE1C account for around 50% and 25%, respectively, of the study cohort, a proportion much higher than previously reported series
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Has reproduction · 83
Gene-expression patterns in peripheral blood classify familial breast cancer susceptibility.
PMID 26538066 · PMC4634735 · BMC medical genomics · 2015 · 8 claims · 5 setups
A multigene peripheral-blood gene-expression biomarker accurately classifies which women from high-risk families develop familial breast cancer.
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Personalized genomic medicine with a patchwork, partially owned genome.
PMID 18449389 · PMC2347364 · The Yale journal of biology and medicine · 2007 · 8 claims · 6 setups
Structural variants (CNVs) cover as much as 20 percent of the human genome length and are present in phenotypically normal individuals without apparent negative consequences.
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Detection of large deletions in the LDL receptor gene with quantitative PCR methods.
PMID 15842735 · PMC1087844 · BMC medical genetics · 2005 · 7 claims · 3 setups
MLPA was cheaper, more accurate and more precise than Real-Time PCR for detecting LDL receptor gene deletions
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High throughput detection of M6P/IGF2R intronic hypermethylation and LOH in ovarian cancer.
PMID 16432260 · PMC1345698 · Nucleic acids research · 2006 · 8 claims · 5 setups
A 96-well high-throughput bisulfite modification (HTBM) method was developed and validated against single-sample bisulfite modification (SSBM), producing comparable methylation results even from as little as 3 ng DNA.
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A case report of familial benign hypocalciuric hypercalcemia: a mutation in the calcium-sensing receptor gene.
PMID 16642557 · PMC2687637 · Yonsei medical journal · 2006 · 8 claims · 6 setups
A heterozygous E297K mutation (GAG→AAG, exon 4) of the CaSR gene was identified in a Korean family with FBHH.
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Large-scale copy number variants (CNVs): distribution in normal subjects and FISH/real-time qPCR analysis.
PMID 17565693 · PMC1920519 · BMC genomics · 2007 · 8 claims · 4 setups
42 different CNVs were detected in 27 phenotypically normal individuals using 1 Mb resolution BAC array-CGH
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Interpretation of genomic data: questions and answers.
PMID 18582627 · PMC2528831 · Seminars in hematology · 2008 · 8 claims · 6 setups
The main challenge in using genomic technology in cancer research is not managing the volume of data but the proper design, analysis, and reporting of studies.
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Has reproduction · 79
Enriched domain detector: a program for detection of wide genomic enrichment domains robust against local variations.
PMID 24782521 · PMC4066758 · Nucleic acids research · 2014 · 8 claims · 5 setups
EDD is a new algorithm that detects broad (megabase-size) enrichment domains from ChIP-seq data of widely distributed chromatin proteins such as A- and B-type lamins.