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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High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area.
PMID 16168118 · PMC1242140 · Breast cancer research : BCR · 2005 · 8 claims · 4 setups
BRCA1 c.5266dupC (5382insC) is the dominant recurrent mutation driving hereditary breast/ovarian cancer in this Czech population
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Next-generation high-density self-assembling functional protein arrays.
PMID 18469824 · PMC3070491 · Nature methods · 2008 · 8 claims · 7 setups
A next-generation NAPPA method produces high-density protein microarrays displaying over 1500 unique proteins with >90% expression success
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GoMiner: a resource for biological interpretation of genomic and proteomic data.
PMID 12702209 · PMC154579 · Genome biology · 2003 · 8 claims · 4 setups
GoMiner organizes 'interesting' gene lists (e.g., differentially expressed genes) into the Gene Ontology hierarchy for biological interpretation, displaying results as both a tree and a directed acyclic graph (DAG).
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AceView: a comprehensive cDNA-supported gene and transcripts annotation.
PMID 16925834 · PMC1810549 · Genome biology · 2006 · 8 claims · 4 setups
At the mRNA level, AceView transcripts are the closest match to Gencode transcripts among all evaluated methods, including alternative splice variants
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Has reproduction · 71
Hyb: a bioinformatics pipeline for the analysis of CLASH (crosslinking, ligation and sequencing of hybrids) data.
PMID 24211736 · PMC3969109 · Methods (San Diego, Calif.) · 2014 · 8 claims · 6 setups
The 'hyb' pipeline detects, calls, folds and annotates chimeric reads from CLASH high-throughput sequencing data.
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Finding disease candidate genes by liquid association.
PMID 17915034 · PMC2246280 · Genome biology · 2007 · 7 claims · 6 setups
LA can detect functionally associated genes that are not directly co-expressed by identifying a mediating gene Z whose expression level changes the correlation between X and Y.
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Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2.
PMID 10188893 · PMC2362698 · British journal of cancer · 1999 · 7 claims · 7 setups
Presence of at least one ovarian cancer case in a small family strongly predicts finding a BRCA1 or BRCA2 mutation.
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Towards precise classification of cancers based on robust gene functional expression profiles.
PMID 15774002 · PMC1274255 · BMC bioinformatics · 2005 · 6 claims · 7 setups
Functional expression profiles (FEPs) achieve comparable or better classification performance than conventional gene expression profiles (GEPs) across four public microarray datasets
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Pairagon+N-SCAN_EST: a model-based gene annotation pipeline.
PMID 16925839 · PMC1810554 · Genome biology · 2006 · 7 claims · 5 setups
Pairagon+N-SCAN_EST, using only native alignments, was as accurate as ENSEMBL and ExoGean in the EGASP mRNA/EST evidence assessment
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EPD in its twentieth year: towards complete promoter coverage of selected model organisms.
PMID 16381980 · PMC1347508 · Nucleic acids research · 2006 · 7 claims · 4 setups
EPD is an annotated, non-redundant collection of experimentally defined eukaryotic POL II promoters accessed via genome position pointers.
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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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Functional importance of different patterns of correlation between adjacent cassette exons in human and mouse.
PMID 18439302 · PMC2432081 · BMC genomics · 2008 · 8 claims · 7 setups
Adjacent cassette exon pairs can be categorized by EST-derived correlation coefficient into three groups: mutually exclusive (ME, r<=-0.7), independent (IND, -0.2<=r<=0.2), and linked (LNK, r>=0.7)
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The molecular characterization and clinical management of multiple myeloma in the post-genome era.
PMID 19657360 · PMC3686133 · Leukemia · 2009 · 8 claims · 8 setups
GEP identifies distinct molecular subgroups of MM associated with differing clinical features and survival outcomes
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Disturbed interaction of p21-rac with mutated p67-phox causes chronic granulomatous disease.
PMID 8879195 · PMC2192830 · The Journal of experimental medicine · 1996 · 6 claims · 8 setups
The patient is a compound heterozygote for a p67-phox gene mutation: an in-frame deletion of lysine 58 on one allele and an 11-13 kb genomic deletion on the other allele.
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BRCA1 and BRCA2 mutations in central and southern Italian patients.
PMID 11056688 · PMC13918 · Breast cancer research : BCR · 2000 · 8 claims · 4 setups
Deleterious germline BRCA1/BRCA2 mutations were detected in 11 of 136 (8%) unrelated Italian breast/ovarian cancer probands.
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Speeding disease gene discovery by sequence based candidate prioritization.
PMID 15766383 · PMC1274252 · BMC bioinformatics · 2005 · 7 claims · 8 setups
Disease genes (OMIM) differ significantly from non-disease genes in sequence-based features including gene/cDNA/protein size, exon number, homolog conservation, secretion signal, 3' UTR length, CpG islands, and distance to nearest gene.
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The 10 sea urchin receptor for egg jelly proteins (SpREJ) are members of the polycystic kidney disease-1 (PKD1) family.
PMID 17629917 · PMC1934368 · BMC genomics · 2007 · 8 claims · 5 setups
Sea urchins possess 10 SpREJ (PKD1 family) genes, compared to five in humans, all defined by possession of a ~600 residue REJ domain
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Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.
PMID 18489799 · PMC2413254 · BMC cancer · 2008 · 8 claims · 6 setups
Pathogenic BRCA1/BRCA2 mutations were identified in 294 of 1,010 (29.1%) unrelated high-risk Czech probands
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Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families.
PMID 18433509 · PMC2386495 · BMC medicine · 2008 · 8 claims · 8 setups
A combination of mutation-screening techniques (PTT, SSCP/HD, D-HPLC, sequencing, MLPA, mosaicism analysis, expression analysis) achieved a 100% mutation detection frequency in classical FAP
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A space-efficient and accurate method for mapping and aligning cDNA sequences onto genomic sequence.
PMID 18344523 · PMC2377433 · Nucleic acids research · 2008 · 7 claims · 6 setups
Spaln maps and aligns large cDNA sequence sets onto whole mammalian genomes using substantially less memory than comparable existing tools