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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Genetical genomics: spotlight on QTL hotspots.
PMID 18949031 · PMC2563687 · PLoS genetics · 2008 · 8 claims · 4 setups
Distant eQTL hotspots are rare and difficult to reliably verify across published genetical genomics studies
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Complex germline and somatic mutation processes at a haploid human minisatellite shown by single-molecule analysis.
PMID 18929582 · PMC2599865 · Mutation research · 2008 · 8 claims · 5 setups
Overall MSY1 mutation frequencies in sperm (2.68%) and blood (1.88%) are not significantly different
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Association of GSK3B with Alzheimer disease and frontotemporal dementia.
PMID 18852354 · PMC2841136 · Archives of neurology · 2008 · 8 claims · 5 setups
The GSK3B intronic polymorphism IVS2-68G>A is associated with increased risk of AD and FTD in a case-control cohort
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Context dependent function of APPb enhancer identified using enhancer trap-containing BACs as transgenes in zebrafish.
PMID 18832376 · PMC2577333 · Nucleic acids research · 2008 · 8 claims · 6 setups
A novel enhancer trap method retrofitting BACs with Tn10-based transposons enables nontargeted, functional mapping of noncontiguous cis-regulatory elements as zebrafish transgenes.
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Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.
PMID 18825676 · PMC2743946 · Annals of neurology · 2008 · 8 claims · 6 setups
All eight new patients had heterozygous glycine substitution mutations toward the N-terminal end of the collagen VI triple helix
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Random amino acid mutations and protein misfolding lead to Shannon limit in sequence-structure communication.
PMID 18769673 · PMC2518838 · PloS one · 2008 · 8 claims · 6 setups
The protein sequence-structure map behaves as a noisy digital communication channel whose capacity C exceeds the transmission rate R for native structures, satisfying Shannon's noisy channel theorem
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Complete genome of Phenylobacterium zucineum--a novel facultative intracellular bacterium isolated from human erythroleukemia cell line K562.
PMID 18700039 · PMC2529317 · BMC genomics · 2008 · 8 claims · 6 setups
Complete genome of P. zucineum HLK1T consists of a 3,996,255 bp circular chromosome and a 382,976 bp circular plasmid encoding 3,861 proteins, 42 tRNAs, and one 16S-23S-5S rRNA operon
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A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individuals.
PMID 18629826 · PMC2697596 · Human mutation · 2008 · 8 claims · 5 setups
A novel 154-bp mtDNA control region deletion (m.16154_16307del154) was identified in a healthy family
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Primase-based whole genome amplification.
PMID 18559358 · PMC2490742 · Nucleic acids research · 2008 · 8 claims · 6 setups
A primase-based Whole Genome Amplification (pWGA) method was developed using T7 gp4 primase to synthesize primers on-template, removing the requirement for synthetic primers
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Improving melanoma classification by integrating genetic and morphologic features.
PMID 18532874 · PMC2408611 · PLoS medicine · 2008 · 7 claims · 5 setups
BRAF-mutant melanomas show distinct morphological features (upward migration and nesting of intraepidermal melanocytes, epidermal thickening, sharper lateral demarcation, larger/rounder/more pigmented tumor cells) compared to non-mutant melanomas
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The use of multiple displacement amplification to amplify complex DNA libraries.
PMID 18285362 · PMC2275127 · Nucleic acids research · 2008 · 7 claims · 8 setups
MDA alone cannot select against/remove plasmid ligation multimers, unlike bacterial propagation
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SeqBuster, a bioinformatic tool for the processing and analysis of small RNAs datasets, reveals ubiquitous miRNA modifications in human embryonic cells.
PMID 20008100 · PMC2836562 · Nucleic acids research · 2010 · 8 claims · 6 setups
SeqBuster is a versatile web-based and stand-alone bioinformatic toolkit for processing and analyzing large-scale small RNA deep sequencing datasets.
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Whole genome distribution and ethnic differentiation of copy number variation in Caucasian and Asian populations.
PMID 19956714 · PMC2776354 · PloS one · 2009 · 8 claims · 5 setups
3,019 CNVs (2,381 autosomal, 638 X chromosome) were identified across 985 Caucasian and 692 Asian individuals using the Affymetrix 500K array
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Population diversity and antibody selective pressure to Plasmodium falciparum MSP1 block2 locus in an African malaria-endemic setting.
PMID 19832989 · PMC2770483 · BMC microbiology · 2009 · 8 claims · 5 setups
The relative proportion of the three Pfmsp1 block2 allelic families (K1, Mad20, RO33) in Dielmo showed no significant temporal fluctuation over a 10-year period (1990-99).
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Use of proteomics for validation of the isolation process of clotting factor IX from human plasma.
PMID 19819359 · PMC2818390 · Journal of proteomics · 2010 · 8 claims · 8 setups
Proteomic techniques (LC-MS/MS, iTRAQ, immunochemical/biochemical methods) can monitor and validate each production step of pd F IX isolation
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Disease-aging network reveals significant roles of aging genes in connecting genetic diseases.
PMID 19779549 · PMC2739292 · PLoS computational biology · 2009 · 8 claims · 8 setups
Human disease genes are much closer to aging genes in the PPI network than expected by chance
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A simple and efficient algorithm for genome-wide homozygosity analysis in disease.
PMID 19756043 · PMC2758715 · Molecular systems biology · 2009 · 8 claims · 4 setups
A genome-wide AH analysis (GAHA) algorithm can identify disease-associated loci by comparing frequencies of homozygous segments between cases and controls using a z-statistic proportion test
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Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese women.
PMID 19727905 · PMC2946578 · Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2010 · 7 claims · 6 setups
Multiple SNPs and haplotypes in FLNB are significantly associated with BMD at lumbar spine, femoral neck, and total hip
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What have we learned from the congenital myasthenic syndromes.
PMID 19688192 · PMC3050586 · Journal of molecular neuroscience : MN · 2010 · 8 claims · 8 setups
CMS have been traced to mutations in at least 11 disease genes encoding proteins at the neuromuscular junction
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BreakDancer: an algorithm for high-resolution mapping of genomic structural variation.
PMID 19668202 · PMC3661775 · Nature methods · 2009 · 8 claims · 8 setups
BreakDancer (BreakDancerMax + BreakDancerMini) is a software package that predicts a wide variety of structural variants including deletions, insertions, inversions, and intra/inter-chromosomal translocations from paired-end short-insert sequencing reads.