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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Has reproduction · 89
Evaluating sequence data quality from the Swift Accel-Amplicon CFTR Panel.
PMID 31913291 · PMC6949293 · Scientific data · 2020 · 6 claims · 7 setups
The Accel-Amplicon CFTR panel generates sequencing data with high coverage depth and near 100% on-target reads.
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COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.
PMID 15756302 · PMC2673054 · European journal of human genetics : EJHG · 2005 · 8 claims · 4 setups
COMP mutations were identified in 78% of families referred with PSACH
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Has reproduction · 50
Performance of methods for SARS-CoV-2 variant detection and abundance estimation within mixed population samples.
PMID 36721781 · PMC9884472 · PeerJ · 2023 · 8 claims · 4 setups
Kallisto was the most accurate VCE on simulated data, having the lowest RRMSE, followed by Freyja
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SpliceMiner: a high-throughput database implementation of the NCBI Evidence Viewer for microarray splice variant analysis.
PMID 17338820 · PMC1839109 · BMC bioinformatics · 2007 · 6 claims · 4 setups
EVDB is a comprehensive, non-redundant relational database of known human splice variants built from NCBI Entrez Gene and Evidence Viewer data
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Assignment of Streptococcus agalactiae isolates to clonal complexes using a small set of single nucleotide polymorphisms.
PMID 18710585 · PMC2533671 · BMC microbiology · 2008 · 7 claims · 6 setups
A four-SNP set (glnA36, glnA429, glcK180, adhP111) identified via the Not-N algorithm plus empirical testing divides GBS into 10 groups concordant with eBURST-defined population structure.
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Prediction and assessment of splicing alterations: implications for clinical testing.
PMID 18951448 · PMC2832470 · Human mutation · 2008 · 8 claims · 5 setups
Bioinformatic prediction alone is insufficient; in vitro analysis is needed to confirm or establish splicing aberrations for clinical variant classification
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Evaluation of human gene variant detection in amplicon pools by the GS-FLX parallel Pyrosequencer.
PMID 18842124 · PMC2569949 · BMC genomics · 2008 · 7 claims · 7 setups
GS-FLX pyrosequencing of pooled amplicons detects sequence variants with high specificity (99.95%) and no false negatives at ≥30× coverage
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Genetic variation in an individual human exome.
PMID 18704161 · PMC2493042 · PLoS genetics · 2008 · 8 claims · 7 setups
The ~12,500 nonsilent coding variants in the HuRef exome can be reduced ~8-fold to a set of ~1,600 variants most likely to affect protein function.
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Patrocles: a database of polymorphic miRNA-mediated gene regulation in vertebrates.
PMID 19906729 · PMC2808989 · Nucleic acids research · 2010 · 8 claims · 6 setups
Patrocles is a database compiling DSPs predicted to perturb miRNA-mediated gene regulation across seven vertebrate species, covering targets, miRNA precursors and silencing machinery.
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Multiple functions of precursor BDNF to CNS neurons: negative regulation of neurite growth, spine formation and cell survival.
PMID 19674479 · PMC2743674 · Molecular brain · 2009 · 7 claims · 8 setups
R125M, R127L, and R125M/R127L BDNF SNP variants are poorly cleaved, resulting in predominant secretion of proBDNF (CR-proBDNF)
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Genetic variation of SARS coronavirus in Beijing Hospital.
PMID 15200810 · PMC3323231 · Emerging infectious diseases · 2004 · 8 claims · 4 setups
113 sequence variations at 9 recurrent variant sites were identified in 29 full-length S-gene sequences compared to the BJ01 reference strain
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Use of modified U1 snRNAs to inhibit HIV-1 replication.
PMID 17158512 · PMC1802557 · Nucleic acids research · 2007 · 7 claims · 6 setups
U1 snRNAs complementary to 5 of 15 targeted conserved regions in the HIV-1 terminal exon significantly suppress HIV-1 protein expression and viral replication, coincident with loss of viral RNA
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A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin.
PMID 18334946 · PMC2255026 · Molecular vision · 2008 · 8 claims · 4 setups
A novel heterozygous c.134G→C change in GJA8, causing p.W45S, was identified as the disease-associated mutation in the affected family
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Exome sequencing of a multigenerational human pedigree.
PMID 20011588 · PMC2788131 · PloS one · 2009 · 8 claims · 6 setups
Microarray-based exome capture combined with 454 GS FLX NGS is an efficient and reliable method to enrich for chromosomal regions of interest, validated on eight individuals from a three-generation pedigree
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Flanking p10 contribution and sequence bias in matrix based epitope prediction: revisiting the assumption of independent binding pockets.
PMID 18925947 · PMC2600787 · BMC structural biology · 2008 · 8 claims · 3 setups
The extended matrix PP10 (built from a proline-containing peptide library) shows significant improvement in binding prediction over the original nine-residue matrix P9
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Identification and recovery of minor HIV-1 variants using the heteroduplex tracking assay and biotinylated probes.
PMID 18948297 · PMC2602764 · Nucleic acids research · 2008 · 6 claims · 8 setups
Incorporating a biotin tag into the HTA probe enables purification of labeled heteroduplexes and direct sequencing of the separated query strand, allowing recovery of minor variant sequences
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Melusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients.
PMID 20017903 · PMC2803168 · BMC medical genetics · 2009 · 6 claims · 5 setups
Only three nucleotide variations in ITGB1BP2 were found among 928 screened subjects, indicating a high degree of conservation of the gene in the populations analyzed