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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Detection of chromosomal structural alterations in single cells by SNP arrays: a systematic survey of amplification bias and optimized workflow.
PMID 18074030 · PMC2111048 · PloS one · 2007 · 8 claims · 7 setups
MDA-based single-cell whole-genome amplification (S-WGA) products show large variability in amplification bias, including allele dropout and preferential amplification.
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Direct inference of SNP heterozygosity rates and resolution of LOH detection.
PMID 18052545 · PMC2098867 · PLoS computational biology · 2007 · 6 claims · 7 setups
A large proportion of SNPs in dbSNP have high-variance HET rate estimates, limiting their reliability for LOH study design.
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miRBase: tools for microRNA genomics.
PMID 17991681 · PMC2238936 · Nucleic acids research · 2008 · 8 claims · 6 setups
miRBase release 10.0 contains 5071 miRNA hairpin loci from 58 species, expressing 5922 distinct mature miRNA sequences, a growth of over 2000 sequences in 2 years
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On the association between chromosomal rearrangements and genic evolution in humans and chimpanzees.
PMID 17971225 · PMC2246304 · Genome biology · 2007 · 8 claims · 4 setups
Genes located in rearranged chromosomes show lower non-coding (KI), synonymous (KS), and non-synonymous (KA) divergence than genes in colinear chromosomes.
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Sequence variation and linkage disequilibrium in the GABA transporter-1 gene (SLC6A1) in five populations: implications for pharmacogenetic research.
PMID 17941974 · PMC2175509 · BMC genetics · 2007 · 8 claims · 7 setups
SLC6A1 shows low levels of LD and an absence of major LD blocks across all five populations studied
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ADaCGH: A parallelized web-based application and R package for the analysis of aCGH data.
PMID 17710137 · PMC1940324 · PloS one · 2007 · 8 claims · 4 setups
ADaCGH implements eight CNA detection methods, including the best-performing ones from recent reviews (CBS, GLAD, CGHseg, HMM)
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Large-scale copy number variants (CNVs): distribution in normal subjects and FISH/real-time qPCR analysis.
PMID 17565693 · PMC1920519 · BMC genomics · 2007 · 8 claims · 4 setups
42 different CNVs were detected in 27 phenotypically normal individuals using 1 Mb resolution BAC array-CGH
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Evaluating the performance of commercial whole-genome marker sets for capturing common genetic variation.
PMID 17562002 · PMC1914356 · BMC genomics · 2007 · 8 claims · 5 setups
Commercial SNP panels provide levels of coverage in a non-reference Caucasian (Estonian) population similar to those seen in the HapMap CEPH (CEU) population sample
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MiPred: classification of real and pseudo microRNA precursors using random forest prediction model with combined features.
PMID 17553836 · PMC1933124 · Nucleic acids research · 2007 · 8 claims · 8 setups
A hybrid feature combining local contiguous triplet structure-sequence composition, MFE of the secondary structure, and P-value of a randomization test improves classification of real vs pseudo pre-miRNAs
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Completing the map of human genetic variation.
PMID 17495918 · PMC2685471 · Nature · 2007 · 8 claims · 5 setups
A community resource initiative will sequence fosmid and BAC clone libraries from 62 HapMap individuals to systematically discover and resolve structural genetic variants at nucleotide resolution
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Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.
PMID 17437275 · PMC2696796 · Human mutation · 2007 · 7 claims · 5 setups
Four novel pathogenic ZEB1 mutations (two deletions, one nonsense, one duplication, all in exon 7) were identified in four of ten unrelated Czech/British PPCD families
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QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data.
PMID 17341461 · PMC1874617 · Nucleic acids research · 2007 · 8 claims · 7 setups
QuantiSNP (OB-HMM) provides probabilistic quantification of copy number states and significantly improves accuracy of segmental aneuploidy identification and breakpoint mapping relative to existing tools (BeadStudio/Illumina)
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Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability.
PMID 17214878 · PMC1779775 · BMC genomics · 2007 · 8 claims · 7 setups
The proportion of subjects lacking DEFA3 varies significantly by population, from 10% to 37%
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Genotype-phenotype associations: modulation by diet and obesity.
PMID 19037211 · PMC2771769 · Obesity (Silver Spring, Md.) · 2008 · 8 claims · 7 setups
Obesity modulates the association between APOE genotype and fasting insulin/glucose levels in men, with obese APOE4 carriers showing higher insulin and glucose than other obese genotype groups.
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Genetic analysis of Leishmania donovani tropism using a naturally attenuated cutaneous strain.
PMID 24992200 · PMC4081786 · PLoS pathogens · 2014 · 8 claims · 8 setups
The CL-SL L. donovani isolate is severely attenuated for survival in visceral organs (liver, spleen) of BALB/c mice compared with the VL-SL isolate, while inducing transient footpad swelling that VL-SL does not.
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Initial characterization of Chlamydophila (Chlamydia) pneumoniae cultured from the late-onset Alzheimer brain.
PMID 18829386 · PMC2730674 · International journal of medical microbiology : IJMM · 2009 · 6 claims · 7 setups
C. pneumoniae was cultured from two late-onset AD brain tissue samples (Tor-1 from hippocampus, Phi-1 from temporal cortex) from different North American regions.
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High fidelity of whole-genome amplified DNA on high-density single nucleotide polymorphism arrays.
PMID 18786630 · PMC2659594 · Genomics · 2008 · 8 claims · 7 setups
WGA product performs well on the Affymetrix 250K SNP array compared to genomic DNA, especially with the BRLMM calling algorithm.
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Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms.
PMID 18784189 · PMC2577347 · Nucleic acids research · 2008 · 8 claims · 6 setups
Genomic waves are present in both Illumina and Affymetrix SNP genotyping arrays, confirming they are not platform-specific
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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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A human genome-wide library of local phylogeny predictions for whole-genome inference problems.
PMID 18710563 · PMC2556685 · BMC genomics · 2008 · 7 claims · 5 setups
A genome-wide library of nearly 16 million local maximum parsimony phylogenies was constructed from HapMap CEU and YRI SNP data across all human autosomes