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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Diversity of preferred nucleotide sequences around the translation initiation codon in eukaryote genomes.
PMID 18086709 · PMC2241899 · Nucleic acids research · 2008 · 8 claims · 5 setups
Preferred nucleotide sequences around the initiation codon are diverse among eukaryote species, but differences roughly reflect evolutionary relationships between species
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Gene-centric characteristics of genome-wide association studies.
PMID 18060058 · PMC2092383 · PloS one · 2007 · 8 claims · 5 setups
High-density SNP chips using either direct or indirect selection approaches provide very high coverage in genic regions and capture most known common disease variants under the HapMap framework.
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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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Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?
PMID 18036263 · PMC2246181 · Breast cancer research : BCR · 2007 · 8 claims · 8 setups
Revised multifactorial likelihood analysis incorporating ER, CK5/6, and CK14 tumor immunohistochemistry improves classification of BRCA1 unclassified variants
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Impact of genomics on animal agriculture and opportunities for animal health.
PMID 18022262 · PMC7114270 · Trends in biotechnology · 2008 · 8 claims · 7 setups
Genomics tools (single-gene tests, SNP chips, genomic selection) will speed genetic improvement of livestock production traits
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Genome-wide location analysis and expression studies reveal a role for p110 CUX1 in the activation of DNA replication genes.
PMID 18003658 · PMC2248751 · Nucleic acids research · 2008 · 8 claims · 8 setups
p110 CUX1 is recruited to promoters of cell cycle-related target genes preferentially during S phase
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GLIDA: GPCR--ligand database for chemical genomics drug discovery--database and tools update.
PMID 17986454 · PMC2238933 · Nucleic acids research · 2008 · 7 claims · 5 setups
GLIDA is a public relational database integrating biological information on GPCRs with chemical information on their ligands and their binding interactions.
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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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Comparative genomic analysis of Campylobacter jejuni associated with Guillain-Barré and Miller Fisher syndromes: neuropathogenic and enteritis-associated isolates can share high levels of genomic similarity.
PMID 17919333 · PMC2174954 · BMC genomics · 2007 · 8 claims · 4 setups
GBS/MFS strains are genomically heterogeneous, falling into about six major lineages rather than a single clonal group
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Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data.
PMID 17910767 · PMC2148068 · BMC bioinformatics · 2007 · 8 claims · 4 setups
Different CNV analysis software packages produce highly variable numbers and types of candidate CNVs from the same data
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Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.
PMID 17764569 · PMC2072945 · BMC medical genetics · 2007 · 7 claims · 4 setups
A nonsense mutation in CDK5RAP2 exon 4, correctly designated 246T>A (Y82X), was identified in all four affected individuals of a Pakistani family linked to MCPH3
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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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Does distance matter? Variations in alternative 3' splicing regulation.
PMID 17704130 · PMC2018619 · Nucleic acids research · 2007 · 8 claims · 7 setups
Alternative 3' splice sites can be distinguished from constitutive splice sites by a combination of sequence/conservation properties that vary depending on the distance between the splice sites.
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Computer-aided identification of polymorphism sets diagnostic for groups of bacterial and viral genetic variants.
PMID 17672919 · PMC1973086 · BMC bioinformatics · 2007 · 6 claims · 8 setups
The Not-N algorithm, incorporated into the Minimum SNPs program, identifies small marker sets diagnostic for user-defined subgroups of genetic variants with 0% false negatives
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Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.
PMID 17668063 · PMC1925147 · PloS one · 2007 · 8 claims · 7 setups
Mutations in UBIAD1 are causal for Schnyder crystalline corneal dystrophy
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Enriched domain detector: a program for detection of wide genomic enrichment domains robust against local variations.
PMID 24782521 · PMC4066758 · Nucleic acids research · 2014 · 8 claims · 5 setups
EDD is a new algorithm that detects broad (megabase-size) enrichment domains from ChIP-seq data of widely distributed chromatin proteins such as A- and B-type lamins.
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Mutation screening and haplotype analysis of the rhodopsin gene locus in Japanese patients with retinitis pigmentosa.
PMID 17653048 · PMC2776539 · Molecular vision · 2007 · 8 claims · 4 setups
No RP patient among 68 Japanese subjects carried a RHO mutation causing an amino acid substitution
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Human disease classification in the postgenomic era: a complex systems approach to human pathobiology.
PMID 17625512 · PMC1948102 · Molecular systems biology · 2007 · 8 claims · 5 setups
Current syndromic disease classification lacks specificity despite historically serving clinicians well
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Comparative genomic analysis of three Leishmania species that cause diverse human disease.
PMID 17572675 · PMC2592530 · Nature genetics · 2007 · 8 claims · 6 setups
L. infantum and L. braziliensis genomes were sequenced and show marked conservation of synteny with L. major, with only ~200 genes differentially distributed among the three species
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A genomic pathway approach to a complex disease: axon guidance and Parkinson disease.
PMID 17571925 · PMC1904362 · PLoS genetics · 2007 · 8 claims · 5 setups
A genomic pathway approach using axon-guidance pathway SNPs strongly predicts PD susceptibility, survival free of PD, and age at onset of PD