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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Challenges and standards in integrating surveys of structural variation.
PMID 17597783 · PMC2698291 · Nature genetics · 2007 · 7 claims · 5 setups
There is no standard approach to collecting, assessing the quality of, or describing structural variants, risking the entire genome eventually being labeled 'structurally variant' based on uncurated nondisease-sample data.
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Integrative genomics analysis of chromosome 5p gain in cervical cancer reveals target over-expressed genes, including Drosha.
PMID 18559093 · PMC2440550 · Molecular cancer · 2008 · 7 claims · 6 setups
Gain of chromosome 5p is the most frequent genomic alteration in invasive cervical cancer
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SW-ARRAY: a dynamic programming solution for the identification of copy-number changes in genomic DNA using array comparative genome hybridization data.
PMID 15961730 · PMC1151590 · Nucleic acids research · 2005 · 7 claims · 5 setups
SW-ARRAY, an adaptation of the Smith-Waterman dynamic programming algorithm, provides a sensitive and robust method for identifying copy-number changes in array CGH data
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A statistical approach for array CGH data analysis.
PMID 15705208 · PMC549559 · BMC bioinformatics · 2005 · 8 claims · 4 setups
Existing model-selection criteria (AIC, BIC, and prior ad hoc penalties) are not well adapted to estimating the number of segments in array CGH data
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Search for genomic alterations in monozygotic twins discordant for cleft lip and/or palate.
PMID 19803774 · PMC2893889 · Twin research and human genetics : the official journal of the International Society for Twin Studies · 2009 · 7 claims · 5 setups
Postzygotic genomic alterations are not a common cause of monozygotic twin discordance for isolated cleft lip and/or palate.
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Transcription dynamics.
PMID 19782025 · PMC6326382 · Molecular cell · 2009 · 8 claims · 8 setups
Transcription factors locate their sparse specific binding sites via a 3D scanning mechanism combining rapid nuclear diffusion with frequent, very transient (seconds-scale) nonspecific chromatin interactions.
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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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Integration of cytogenetic landmarks into the draft sequence of the human genome.
PMID 11237021 · PMC7845515 · Nature · 2001 · 8 claims · 6 setups
7,600 cytogenetically defined landmarks (from a set of 8,877 clones) were placed on the draft sequence of the human genome as a public resource
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Lineage-specific gene duplication and loss in human and great ape evolution.
PMID 15252450 · PMC449870 · PLoS biology · 2004 · 8 claims · 7 setups
Genome-wide interspecies cDNA aCGH can identify lineage-specific gene copy number changes across five hominoid species
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Construction and use of spotted large-insert clone DNA microarrays for the detection of genomic copy number changes.
PMID 17406619 · PMC2688820 · Nature protocols · 2007 · 8 claims · 7 setups
Combining three human-optimized DOP-PCR primers before a secondary amino-labeled PCR increases array hybridization sensitivity and reproducibility sixfold compared to the standard 6MW DOP-PCR primer
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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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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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Comparative analysis of genome tiling array data reveals many novel primate-specific functional RNAs in human.
PMID 17288572 · PMC1796608 · BMC evolutionary biology · 2007 · 8 claims · 6 setups
Widespread transcription occurs across the human genome outside known gene annotations, and the bulk of TARs represent genuine transcripts rather than experimental artifacts
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Profiling humoral immune responses to P. falciparum infection with protein microarrays.
PMID 18937256 · PMC3021802 · Proteomics · 2008 · 7 claims · 5 setups
A protein microarray platform of 250 Pf proteins, individually expressed cell-free and printed unpurified, can profile serum antibody responses across donor groups of differing immune status
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Surface-enhanced laser desorption/ionization time-of-flight proteomic profiling of breast carcinomas identifies clinicopathologically relevant groups of patients similar to previously defined clusters from cDNA expression.
PMID 18510725 · PMC2481497 · Breast cancer research : BCR · 2008 · 7 claims · 7 setups
Unsupervised hierarchical clustering of 130 SELDI-TOF peaks yielded six peak clusters and five distinct groups of breast cancer patients.
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FISH and SNP-A karyotyping in myelodysplastic syndromes: improving cytogenetic detection of del(5q), monosomy 7, del(7q), trisomy 8 and del(20q).
PMID 19758696 · PMC2826525 · Leukemia research · 2010 · 7 claims · 4 setups
MC, FISH, and SNP-A are complementary techniques whose combined use improves diagnostic yield for detecting del(5q), -7/del(7q), trisomy 8, and del(20q) in MDS
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Personalized copy number and segmental duplication maps using next-generation sequencing.
PMID 19718026 · PMC2875196 · Nature genetics · 2009 · 5 claims · 5 setups
mrFAST maps short reads to all possible locations in the reference genome, enabling read-depth-based prediction of absolute copy number in both unique and duplicated sequence, including discrimination between highly identical gene paralogs.
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Pharmacogenomic biomarkers.
PMID 12364812 · PMC3850811 · Disease markers · 2002 · 8 claims · 8 setups
Development of a pharmacogenomic biomarker requires sequential steps: laboratory identification, retrospective confirmation in clinical samples, prospective clinical trial validation, and regulatory approval before patient stratification.
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Characterisation of p53 status at the gene, chromosomal and protein levels in oesophageal adenocarcinoma.
PMID 14583777 · PMC2394414 · British journal of cancer · 2003 · 8 claims · 4 setups
p53 gene mutations are infrequent in oesophageal adenocarcinoma (9.6%)
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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