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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Differences in the evolutionary history of disease genes affected by dominant or recessive mutations.
PMID 16817963 · PMC1534034 · BMC genomics · 2006 · 8 claims · 8 setups
Dominant disease genes are more conserved at the protein level (mouse orthologues) than recessive disease genes.
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Persistence of attenuated HIV-1 rev alleles in an epidemiologically linked cohort of long-term survivors infected with nef-deleted virus.
PMID 17601342 · PMC1933581 · Retrovirology · 2007 · 7 claims · 6 setups
Dominant, persistent rev alleles from SBBC subjects D36 and C64 show ~90% reduced Rev/RRE binding compared to HIV-1 NL4-3, C18, and C98 Revs.
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Simultaneous analysis of all SNPs in genome-wide and re-sequencing association studies.
PMID 18654633 · PMC2464715 · PLoS genetics · 2008 · 8 claims · 5 setups
A Bayesian-inspired penalised maximum likelihood stochastic search method can simultaneously analyse all SNPs (up to 500K) from a GWA study in a few hours on a desktop workstation
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Prioritization of candidate cancer genes--an aid to oncogenomic studies.
PMID 18710882 · PMC2566894 · Nucleic acids research · 2008 · 8 claims · 8 setups
Computational classifiers using combinations of protein conservation, gene structure, protein domains, protein interactions, and regulatory data can distinguish known cancer genes (CD/CR) from unlabelled human genes
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Identification of the REST regulon reveals extensive transposable element-mediated binding site duplication.
PMID 16899447 · PMC1557810 · Nucleic acids research · 2006 · 8 claims · 8 setups
The RE1 PSSM identifies functional RE1 binding sites with greater sensitivity and selectivity than the previously used RE1 consensus sequence
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A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment.
PMID 17517145 · PMC1890544 · BMC medical genetics · 2007 · 7 claims · 6 setups
A novel heterozygous missense mutation Y669H (2005T>C) in exon 8 of WFS1 was identified in affected family members but not in 100 controls (200 chromosomes)
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A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin.
PMID 18587493 · PMC2435161 · Molecular vision · 2008 · 6 claims · 4 setups
A heterozygous c.262C>A mutation in GJA8 (connexin 50), causing p.P88Q, is associated with a novel 'balloon-like' cataract phenotype with prominent Y-sutural opacities in an Indian family.
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Skittle: a 2-dimensional genome visualization tool.
PMID 20042093 · PMC2817707 · BMC bioinformatics · 2009 · 7 claims · 6 setups
Skittle is a 2D genome visualization tool combining a color-coded Nucleotide Display, a Repeat Map, a Repeat Overview, and an Alignment Cylinder to reveal genomic patterns at multiple scales
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Targeted capture and massively parallel sequencing of 12 human exomes.
PMID 19684571 · PMC2844771 · Nature · 2009 · 8 claims · 8 setups
Targeted exome capture combined with massively parallel sequencing sensitively and specifically identifies rare and common variants across >300 Mb of coding sequence
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Has reproduction · 69
Manual curation for improved genome annotation of the functionally extinct northern white rhinoceros (Ceratotherium simum cottoni).
PMID 41490125 · PMC12768360 · PloS one · 2026 · 7 claims · 7 setups
Manual curation of RNA-seq-derived de novo transcripts increased the number of functional genes in the NWR annotation by 81% (from 8,701 to 15,738).
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An SVD-based comparison of nine whole eukaryotic genomes supports a coelomate rather than ecdysozoan lineage.
PMID 15606920 · PMC544558 · BMC bioinformatics · 2004 · 8 claims · 7 setups
SVD-based analysis of tetrapeptide frequency vectors can compare whole eukaryotic proteomes without pre-defining orthologs or aligning homologous sites
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The vaginal bacterial communities of Japanese women resemble those of women in other racial groups.
PMID 19912342 · PMC2868947 · FEMS immunology and medical microbiology · 2010 · 7 claims · 5 setups
The types of vaginal bacterial communities found in Japanese women closely resemble those previously found in White and Black North American women.
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High-throughput genomic technology in research and clinical management of breast cancer. Plasma-based proteomics in early detection and therapy.
PMID 17184556 · PMC1797031 · Breast cancer research : BCR · 2006 · 8 claims · 8 setups
Plasma is well suited to proteomic biomarker discovery because it is easily obtained, routinely used diagnostically, and has a rich proteome.
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Protein kinase A-dependent biophysical phenotype for V227F-KCNJ2 mutation in catecholaminergic polymorphic ventricular tachycardia.
PMID 19843922 · PMC2766080 · Circulation. Arrhythmia and electrophysiology · 2009 · 7 claims · 7 setups
Homomeric Kir2.1-V227F channels have significantly reduced I K1 (inward reduced ~40%; outward reduced 85-99% at -40 to -60mV) compared to WT
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The meso-genomic era.
PMID 11516332 · PMC139414 · Genome biology · 2001 · 8 claims · 8 setups
Linkage disequilibrium (LD) between SNPs extends much further in Northern European populations (~120 kb) than in a Nigerian population (<10 kb), reflecting differing population histories (bottlenecks vs. constant expansion).