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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Undergraduate research. Genomics Education Partnership.
PMID 18974335 · PMC2953277 · Science (New York, N.Y.) · 2008 · 6 claims · 4 setups
A course-embedded, multi-institution undergraduate research model (the Genomics Education Partnership) can deliver authentic research experiences during the academic year rather than only in summer programs.
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Has reproduction · 78
Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage.
PMID 32367296 · PMC7419486 · Journal of neurology · 2020 · 8 claims · 6 setups
Sequence variants in PCNT, RNF213 and THSD1 support a role as susceptibility factors for cerebrovascular disease (UIA/aSAH)
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ChimerDB--a knowledgebase for fusion sequences.
PMID 16381848 · PMC1347382 · Nucleic acids research · 2006 · 8 claims · 6 setups
ChimerDB integrates bioinformatics analysis of mRNA/EST sequences, manually collected literature data, and OMIM translocation data into a single fusion sequence knowledgebase
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Classification of real and pseudo microRNA precursors using local structure-sequence features and support vector machine.
PMID 16381612 · PMC1360673 · BMC bioinformatics · 2005 · 7 claims · 7 setups
A 32-dimensional triplet structure-sequence feature vector combined with SVM (triplet-SVM) can distinguish real human pre-miRNAs from pseudo pre-miRNA hairpins with ~90% accuracy.
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Has reproduction
Genome-wide signatures of convergent evolution in echolocating mammals.
PMID 24005325 · PMC3836225 · Nature · 2013 · 8 claims · 8 setups
Genome-wide convergent sequence evolution between echolocating lineages is not rare but widespread and continuously distributed, with signatures consistent with convergence in nearly 200 loci out of 2,326 examined.
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Integrating alternative splicing detection into gene prediction.
PMID 15705189 · PMC550657 · BMC bioinformatics · 2005 · 8 claims · 4 setups
An integrative intrinsic/extrinsic method was implemented in the gene finder EuGÈNE (as EuGÈNE-M) to detect AS evidence from aligned transcripts and generate alternative optimal gene predictions consistent with each detected AS event.
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Local combinational variables: an approach used in DNA-binding helix-turn-helix motif prediction with sequence information.
PMID 19651875 · PMC2761287 · Nucleic acids research · 2009 · 8 claims · 7 setups
The LCV approach predicts HTH motifs with 93.29% accuracy, 93.93% sensitivity and 92.66% specificity using only primary sequence information
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Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer.
PMID 16280053 · PMC1410737 · Breast cancer research : BCR · 2005 · 8 claims · 8 setups
There is no evidence that highly penetrant exonic or splice site mutations in FANCD2, BRIP1/BACH1, LMO4 or SFN contribute to familial breast cancer
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Phosphorylation states of cell cycle and DNA repair proteins can be altered by the nsSNPs.
PMID 16111488 · PMC1208866 · BMC cancer · 2005 · 8 claims · 4 setups
15 of 89 nsSNPs (16.9%) studied were predicted to abolish or create phosphorylation sites in 14 of 32 proteins (44.0%)
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Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.
PMID 17437275 · PMC2696796 · Human mutation · 2007 · 7 claims · 5 setups
Four novel pathogenic ZEB1 mutations (two deletions, one nonsense, one duplication, all in exon 7) were identified in four of ten unrelated Czech/British PPCD families
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Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis.
PMID 18802454 · PMC2527686 · PLoS genetics · 2008 · 8 claims · 6 setups
Three heterozygous missense mutations (p.M337V, p.N345K, p.I383V) in exon 6 of TARDBP were identified in familial ALS patients
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Improved mutation tagging with gene identifiers applied to membrane protein stability prediction.
PMID 19758467 · PMC2745585 · BMC bioinformatics · 2009 · 8 claims · 4 setups
MutationTagger achieves 87% F-measure for the mutation retrieval task on a benchmark dataset
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Has reproduction · 100
Genomic approaches used to investigate an atypical outbreak of Salmonella Adjame.
PMID 30648934 · PMC6412060 · Microbial genomics · 2019 · 7 claims · 7 setups
The S. Adjame outbreak produced a heterogeneous phylogeny with multiple temporally/geographically linked sub-clusters, atypical of a point-source Salmonella outbreak and consistent with contamination from an endemic mixed-strain source (imported South Asian herbs/spices).
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Molecular analysis of Plasmodium ovale variants.
PMID 15324543 · PMC3323326 · Emerging infectious diseases · 2004 · 8 claims · 5 setups
P. ovale isolates separate into two genetically distinct types, classic (Nigerian I/CDC) and variant (LS), consistent across four independent gene loci.
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Has reproduction · 65
FusionQ: a novel approach for gene fusion detection and quantification from paired-end RNA-Seq.
PMID 23768108 · PMC3691734 · BMC bioinformatics · 2013 · 8 claims · 8 setups
FusionQ is a novel tool that detects gene fusions, constructs chimerical transcript structures, and estimates their abundances from paired-end RNA-Seq data.
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The pseudo-mitochondrial genome influences mistakes in heteroplasmy interpretation.
PMID 16859552 · PMC1538596 · BMC genomics · 2006 · 7 claims · 7 setups
Numts co-amplified with mtDNA during PCR generate false heteroplasmic signals at specific nucleotide positions.
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G2Cdb: the Genes to Cognition database.
PMID 18984621 · PMC2686544 · Nucleic acids research · 2009 · 7 claims · 7 setups
G2Cdb integrates experimentally validated synapse proteome datasets with mouse/human genomic annotation, phenotype, and human disease data in a gene-centric database.
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Has reproduction · 73
Genomics of Environmental Salmonella: Engaging Students in the Microbiology and Bioinformatics of Foodborne Pathogens.
PMID 33967968 · PMC8100199 · Frontiers in microbiology · 2021 · 8 claims · 8 setups
An undergraduate CURE combining field sampling, wet-lab microbiology, and genomic bioinformatics can be used to isolate and characterize environmental S. enterica strains.
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Family history of breast cancer and all-cause mortality after breast cancer diagnosis in the Breast Cancer Family Registry.
PMID 19034644 · PMC2728159 · Breast cancer research and treatment · 2009 · 7 claims · 5 setups
Family history of breast cancer is not associated with all-cause mortality after breast cancer diagnosis in women without a known germline BRCA1/BRCA2 mutation.
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Multiple epiphyseal dysplasia.
PMID 19995321 · PMC2823319 · Acta orthopaedica · 2009 · 8 claims · 4 setups
An exon 3/intron 3 donor splice mutation (IVS3DS [+2] T>C) in COL9A2 was identified in all affected family members