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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Identification of polymorphisms and balancing selection in the male infertility candidate gene, ornithine decarboxylase antizyme 3.
PMID 16542438 · PMC1526716 · BMC medical genetics · 2006 · 8 claims · 6 setups
Mutations in the OAZ3 gene are not a common cause of male infertility
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Genetic analysis of completely sequenced disease-associated MHC haplotypes identifies shuffling of segments in recent human history.
PMID 16440057 · PMC1331980 · PLoS genetics · 2006 · 7 claims · 6 setups
Complete 4.25-Mb sequence of the QBL haplotype was determined by BAC shotgun sequencing and compared with PGF (reference) and COX haplotypes
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Comparative analysis of cancer genes in the human and chimpanzee genomes.
PMID 16438707 · PMC1382208 · BMC genomics · 2006 · 7 claims · 6 setups
All 333 examined human cancer genes have intact, highly conserved orthologs in the chimpanzee genome (99.38% protein identity).
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LMPD: LIPID MAPS proteome database.
PMID 16381922 · PMC1347484 · Nucleic acids research · 2006 · 8 claims · 5 setups
LMPD is an object-relational database of lipid-associated protein sequences and annotations, publicly available from the LIPID MAPS Consortium website.
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Backseat drivers take the wheel.
PMID 18068625 · PMC2705833 · Cancer cell · 2007 · 8 claims · 8 setups
Systematic resequencing combined with functional validation can distinguish rare driver FLT3 mutations from passenger mutations in AML patients negative for known activating mutations
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Single nucleotide polymorphisms in bone turnover-related genes in Koreans: ethnic differences in linkage disequilibrium and haplotype.
PMID 18036257 · PMC2222243 · BMC medical genetics · 2007 · 8 claims · 5 setups
Resequencing 81 candidate osteoporosis genes in 24 Koreans identified 942 variants (888 SNPs, 43 indels, 11 microsatellites)
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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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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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The diploid genome sequence of an individual human.
PMID 17803354 · PMC1964779 · PLoS biology · 2007 · 7 claims · 6 setups
Generated an independently assembled diploid human genome sequence (HuRef) from both chromosome sets of a single individual using whole-genome shotgun Sanger sequencing
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BCoR-L1 variation and breast cancer.
PMID 17697391 · PMC2206730 · Breast cancer research : BCR · 2007 · 8 claims · 7 setups
BCoR-L1 expression does not play a large role in predisposition to familial breast cancer
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Persistence of attenuated HIV-1 rev alleles in an epidemiologically linked cohort of long-term survivors infected with nef-deleted virus.
PMID 17601342 · PMC1933581 · Retrovirology · 2007 · 7 claims · 6 setups
Dominant, persistent rev alleles from SBBC subjects D36 and C64 show ~90% reduced Rev/RRE binding compared to HIV-1 NL4-3, C18, and C98 Revs.
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CanPredict: a computational tool for predicting cancer-associated missense mutations.
PMID 17537827 · PMC1933186 · Nucleic acids research · 2007 · 8 claims · 7 setups
CanPredict is a web application providing public access to a random forest classifier that combines SIFT, LogR.E-value, and GOSS scores to predict whether a missense mutation is cancer-associated
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Addressing the obesity epidemic: a genomics perspective.
PMID 17362622 · PMC1893129 · Preventing chronic disease · 2007 · 8 claims · 8 setups
Obesity is a multifactorial disorder reflecting complex interactions of genes, environment, and lifestyle
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In silico whole-genome screening for cancer-related single-nucleotide polymorphisms located in human mRNA untranslated regions.
PMID 17201911 · PMC1774567 · BMC genomics · 2007 · 8 claims · 5 setups
A computational EST-based pipeline can identify UTR-SNPs that are statistically over-represented in cancerous versus normal tissue libraries
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A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome.
PMID 19052653 · PMC2592999 · Molecular vision · 2008 · 7 claims · 4 setups
PITX2 is considered the major causative gene for full-spectrum Axenfeld-Rieger syndrome.
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Short-term genome evolution of Listeria monocytogenes in a non-controlled environment.
PMID 19014550 · PMC2642827 · BMC genomics · 2008 · 6 claims · 6 setups
The 2000 listeriosis outbreak was likely caused by an L. monocytogenes strain that persisted in the food processing facility for at least 12 years since 1988
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Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1.
PMID 18992264 · PMC2682550 · Mutation research · 2009 · 8 claims · 8 setups
A combined functional assay, bioinformatics prediction, and structural modeling approach can classify BRCA1 variants of uncertain significance
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Searching for genes underlying behavior: lessons from circadian rhythms.
PMID 18988844 · PMC3744585 · Science (New York, N.Y.) · 2008 · 8 claims · 5 setups
Forward genetic mutagenesis screens successfully identified the molecular components of the circadian clock across Drosophila, Neurospora, cyanobacteria, Arabidopsis, and mouse.
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Accurate whole human genome sequencing using reversible terminator chemistry.
PMID 18987734 · PMC2581791 · Nature · 2008 · 8 claims · 7 setups
A novel sequencing platform using fluorescent reversible terminator nucleotides on clonally amplified single-molecule DNA clusters generates several billion bases of accurate sequence per experiment at low cost.
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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).