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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Application of machine learning in SNP discovery.
PMID 16398931 · PMC1955739 · BMC bioinformatics · 2006 · 8 claims · 6 setups
PolyBayes produces high false-positive SNP predictions even with stringent parameters
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Co-circulation and evolution of polioviruses and species C enteroviruses in a district of Madagascar.
PMID 18085822 · PMC2134956 · PLoS pathogens · 2007 · 8 claims · 8 setups
Madagascar VDPVs are intertypic/interspecies recombinants with Sabin 2-derived sequence in the 5'-half of the genome and HEV-C-derived sequence in the 3'-half
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A paradigm for virus-host coevolution: sequential counter-adaptations between endogenous and exogenous retroviruses.
PMID 17997604 · PMC2065879 · PLoS pathogens · 2007 · 8 claims · 5 setups
Two enJSRV proviruses (enJS56A1 and enJSRV-20) independently acquired a defective, transdominant Gag (R21W substitution) that blocks late replication steps of exogenous JSRV/ENTV
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Paired-end mapping reveals extensive structural variation in the human genome.
PMID 17901297 · PMC2674581 · Science (New York, N.Y.) · 2007 · 8 claims · 8 setups
Paired-end mapping (PEM) combining 3-kb fragment paired-end capture, massive 454 sequencing, and computational mapping detects SVs ~3 kb or larger with an average breakpoint resolution of 644 bp
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Sulfonylurea therapy in two Korean patients with insulin-treated neonatal diabetes due to heterozygous mutations of the KCNJ11 gene encoding Kir6.2.
PMID 17728498 · PMC2693808 · Journal of Korean medical science · 2007 · 7 claims · 4 setups
Two Korean children with PND carry heterozygous KCNJ11 mutations (K170R and V59M) affecting Kir6.2.
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Mutations of the Igbeta gene cause agammaglobulinemia in man.
PMID 17709424 · PMC2118692 · The Journal of experimental medicine · 2007 · 6 claims · 5 setups
A homozygous nonsense mutation (Gln80X) in the Igβ (B29) gene causes agammaglobulinemia in a human patient
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External contamination in single cell mtDNA analysis.
PMID 17668059 · PMC1930155 · PloS one · 2007 · 8 claims · 6 setups
External DNA contamination is a real and non-negligible problem in single-cell mtDNA sequence analysis
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Using comparative genomics to reorder the human genome sequence into a virtual sheep genome.
PMID 17663790 · PMC2323240 · Genome biology · 2007 · 8 claims · 6 setups
A sheep BAC library (CHORI-243) with ~13.5-fold genome coverage was constructed and end-sequenced.
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TEMP: a computational method for analyzing transposable element polymorphism in populations.
PMID 24753423 · PMC4066757 · Nucleic acids research · 2014 · 8 claims · 8 setups
TEMP combines pair-end (discordant) read and split (soft-clipped) read information to identify both presence and absence of TE insertions in genomic DNA from heterogeneous/pooled samples.
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Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1.
PMID 17511870 · PMC1888713 · BMC genetics · 2007 · 8 claims · 5 setups
Most individuals with CFEOM1 and rare individuals with CFEOM3 harbor heterozygous mutations in KIF21A
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Identification of the imprinted KLF14 transcription factor undergoing human-specific accelerated evolution.
PMID 17480121 · PMC1865561 · PLoS genetics · 2007 · 7 claims · 8 setups
KLF14 is a novel imprinted gene showing monoallelic maternal expression in embryonic and extra-embryonic tissues of both human and mouse
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Two novel missense mutations in the myostatin gene identified in Japanese patients with Duchenne muscular dystrophy.
PMID 17428346 · PMC1855920 · BMC medical genetics · 2007 · 7 claims · 5 setups
Two novel missense mutations in the myostatin gene (p.95D>H and p.156L>I) were identified in Japanese DMD patients
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Expansion of the Bactericidal/Permeability Increasing-like (BPI-like) protein locus in cattle.
PMID 17362520 · PMC1839098 · BMC genomics · 2007 · 8 claims · 8 setups
The bovine BPI-like locus spans 470 kbp and contains 14 contiguous genes (13 intact + 1 pseudogene); 9 are orthologous to human/mouse BPI-like genes and 4 (named BSP30A, BSP30B, BSP30C, BSP30D) arose through cattle-specific duplication of the PSP gene
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Resequencing of genes for transforming growth factor beta1 (TGFB1) type 1 and 2 receptors (TGFBR1, TGFBR2), and association analysis of variants with diabetic nephropathy.
PMID 17319955 · PMC1808054 · BMC medical genetics · 2007 · 7 claims · 7 setups
TGFβ1 is a crucial mediator in the pathogenesis of diabetic nephropathy, promoting renal hypertrophy and extracellular matrix accumulation.
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Fucosylated glycoproteins as markers of liver disease.
PMID 19126969 · PMC3827789 · Disease markers · 2008 · 8 claims · 6 setups
Core alpha 1,6-linked fucosylation of AFP (AFP-L3) is increased in HCC and is a more specific marker of HCC than total AFP
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Optineurin coding variants in Ghanaian patients with primary open-angle glaucoma.
PMID 19096531 · PMC2605106 · Molecular vision · 2008 · 8 claims · 4 setups
OPTN coding variant allele frequencies do not differ significantly between POAG cases and controls in the Ghanaian population.
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Epidemiology of doublet/multiplet mutations in lung cancers: evidence that a subset arises by chronocoordinate events.
PMID 19005564 · PMC2579325 · PloS one · 2008 · 8 claims · 7 setups
Doublet mutations are significantly more frequent in EGFR (6.0%) and TP53 (2.3%) in human lung cancer than spontaneous doublets in mouse lacI (0.7%), about 8-fold and 3-fold higher respectively.
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Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.
PMID 18978956 · PMC2576482 · Molecular vision · 2008 · 7 claims · 6 setups
Mutations in GPR143 were identified in each of six Chinese OA1 families, comprising five novel mutations and one previously known mutation (c.353G>A).
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Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.
PMID 18977788 · PMC2743849 · The British journal of ophthalmology · 2009 · 7 claims · 5 setups
ABCA4 carrier-frequency-based prevalence estimates of arSTGD (1:1000 and 1:870) are substantially higher than the previously reported phenotypic prevalence of 1:10,000
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Country-wide assessment of the genetic polymorphism in Plasmodium falciparum and Plasmodium vivax antigens detected with rapid diagnostic tests for malaria.
PMID 18957099 · PMC2582241 · Malaria journal · 2008 · 7 claims · 8 setups
pfhrp2 and pfhrp3 genes show markedly higher polymorphism than the P. falciparum and P. vivax aldolase and pldh genes