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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The association of membrane frizzled-related protein (MFRP) gene with acute angle-closure glaucoma--a pilot study.
PMID 18781223 · PMC2532703 · Molecular vision · 2008 · 8 claims · 4 setups
None of the three MFRP sequence variants tested (rs3814762, rs36015759, rs2510143) showed a statistically significant association with acute angle-closure glaucoma
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Developmental and genetic regulation of human surfactant protein B in vivo.
PMID 18776725 · PMC2765709 · Neonatology · 2009 · 8 claims · 7 setups
Pro-SP-B peptides are more common in developmentally less mature humans (amniotic fluid, neonatal tracheal aspirates) than in adults
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Core signaling pathways in human pancreatic cancers revealed by global genomic analyses.
PMID 18772397 · PMC2848990 · Science (New York, N.Y.) · 2008 · 8 claims · 6 setups
Pancreatic cancers contain an average of 63 genetic alterations, the majority of which are point mutations
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An integrated genomic analysis of human glioblastoma multiforme.
PMID 18772396 · PMC2820389 · Science (New York, N.Y.) · 2008 · 8 claims · 7 setups
IDH1 is recurrently mutated at its active site (R132) in 12% of GBM patients, a previously unrecognized alteration in GBM.
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Biodefense versus bioterrorism.
PMID 18771576 · PMC2575524 · Genome biology · 2008 · 5 claims · 4 setups
Whole-genome sequencing and comparative genomics of the attack strain were used to trace the anthrax letters to a specific laboratory flask
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Oncogenic mutations in GNAQ occur early in uveal melanoma.
PMID 18719078 · PMC2634606 · Investigative ophthalmology & visual science · 2008 · 8 claims · 7 setups
Activating GNAQ mutations at codon 209 occur in 33/67 (49%) of primary uveal melanomas, making it the most common known oncogenic mutation in UM
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Evaluation of SCN8A as a candidate gene for autosomal dominant essential tremor.
PMID 18718804 · PMC2877193 · Parkinsonism & related disorders · 2009 · 7 claims · 6 setups
Mutations in the coding sequence and splice sites of human SCN8A do not appear to be a common cause of autosomal dominant essential tremor in Caucasian patients.
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Comprehensive resequence analysis of a 136 kb region of human chromosome 8q24 associated with prostate and colon cancers.
PMID 18704501 · PMC2525844 · Human genetics · 2008 · 6 claims · 5 setups
Next-generation (Roche/454) resequencing of 136 kb at 8q24 in 39 prostate cancer cases and 40 controls generated a comprehensive catalog of common SNPs (MAF>1%), including 442 novel SNPs
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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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Short tandem repeat sequences in the Mycoplasma genitalium genome and their use in a multilocus genotyping system.
PMID 18664269 · PMC2515158 · BMC microbiology · 2008 · 8 claims · 7 setups
18 STR loci (1-5 base repeat units, copy number 4-26) were identified in the M. genitalium G37 genome via bioinformatics analysis.
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The dystrobrevin-binding protein 1 gene: features and networks.
PMID 18663367 · PMC2859304 · Molecular psychiatry · 2009 · 8 claims · 6 setups
DTNBP1 gene structure, protein-coding sequence, and dysbindin domain are conserved across 13 vertebrate species, while noncoding sequence is diverse.
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Neurofibrillary tau pathology modulated by genetic variation of alpha-synuclein.
PMID 18661559 · PMC8957216 · Annals of neurology · 2008 · 7 claims · 5 setups
The SNCA intron 4 marker rs2572324 is associated with the extent of neurofibrillary tangle (Braak stage) pathology.
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Analysis of expressed sequence tags from Actinidia: applications of a cross species EST database for gene discovery in the areas of flavor, health, color and ripening.
PMID 18655731 · PMC2515324 · BMC genomics · 2008 · 7 claims · 6 setups
A collection of 132,577 ESTs from four Actinidia species was generated and clustered into 41,858 non-redundant clusters (18,070 TCs and 23,788 singletons)
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BRCA1 mutations in Algerian breast cancer patients: high frequency in young, sporadic cases.
PMID 18645608 · PMC2452980 · International journal of medical sciences · 2008 · 8 claims · 5 setups
BRCA1 mutations occur at unusually high frequency in young sporadic Algerian breast cancer cases (9.8%) compared to Western populations
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Comparative analysis reveals signatures of differentiation amid genomic polymorphism in Lake Malawi cichlids.
PMID 18616806 · PMC2530870 · Genome biology · 2008 · 8 claims · 8 setups
Lake Malawi cichlids are phenotypically and behaviorally diverse but appear genetically like a single subdivided population rather than distinct species
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Interpretation of genomic data: questions and answers.
PMID 18582627 · PMC2528831 · Seminars in hematology · 2008 · 8 claims · 6 setups
The main challenge in using genomic technology in cancer research is not managing the volume of data but the proper design, analysis, and reporting of studies.
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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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Genome-wide survey of allele-specific splicing in humans.
PMID 18518984 · PMC2427040 · BMC genomics · 2008 · 8 claims · 5 setups
A genome-wide computational scan identified 30,977 SNPs located within predicted splicing regulatory sequences (donor sites, acceptor sites, branch points, and ESEs)
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Genomic medicine and developing countries: creating a room of their own.
PMID 18487990 · PMC7096950 · Nature reviews. Genetics · 2008 · 8 claims · 6 setups
Developing countries can harness human genetic variation to benefit their populations and economies rather than only importing technology from developed nations.
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Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing.
PMID 18438408 · PMC2705838 · Nature genetics · 2008 · 8 claims · 8 setups
Massively parallel paired-end sequencing can characterize somatic and germline structural rearrangements to base-pair resolution across a whole cancer genome