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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Strand bias in complementary single-nucleotide polymorphisms of transcribed human sequences: evidence for functional effects of synonymous polymorphisms.
PMID 16916449 · PMC1559705 · BMC genomics · 2006 · 8 claims · 5 setups
Genome-wide, both intronic SNPs (iSNPs) and FFD SNPs show a significant excess of A→G over complementary T→C substitutions, confirming prior transcription-coupled repair (TCR) findings from a single chromosome 7 region.
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Evolution of genomic sequence inhomogeneity at mid-range scales.
PMID 19891785 · PMC2779198 · BMC genomics · 2009 · 7 claims · 3 setups
MRI regions have comparable levels of de novo mutations to control genomic sequences with average base composition.
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Visual exploration of genetic association with voxel-based imaging phenotypes in an MCI/AD study.
PMID 19963597 · PMC2928997 · Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference · 2009 · 6 claims · 4 setups
Developed an imaging genomic browsing system allowing whole genome and entire brain analyses via visual exploration
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SOP3v2: web-based selection of oligonucleotide primer trios for genotyping of human and mouse polymorphisms.
PMID 15980532 · PMC1160243 · Nucleic acids research · 2005 · 7 claims · 3 setups
SOP 3 v2 is a web-based application that outputs recommended forward/reverse PCR primers plus a sequencing primer optimized for sequence-based genotyping of human and mouse polymorphisms
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DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinic-based population with broad ethnic diversity.
PMID 18254956 · PMC2270804 · BMC medical genetics · 2008 · 8 claims · 5 setups
Three LOXL1 SNPs previously associated with pseudoexfoliation in Nordic populations are significantly associated with pseudoexfoliation syndrome and pseudoexfoliation glaucoma in a U.S. ethnically diverse population
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MuPlex: multi-objective multiplex PCR assay design.
PMID 15980531 · PMC1160138 · Nucleic acids research · 2005 · 8 claims · 3 setups
MuPlex is a web-enabled system that designs multiplex PCR assays by selecting primer pairs for SNPs and partitioning them into multiplex-compatible tube sets.
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MLGA--a rapid and cost-efficient assay for gene copy-number analysis.
PMID 17823203 · PMC2034490 · Nucleic acids research · 2007 · 8 claims · 4 setups
MLGA is a novel selector-based technique using multiplex ligation-dependent circularization of genomic DNA fragments for copy-number analysis
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Search for genomic alterations in monozygotic twins discordant for cleft lip and/or palate.
PMID 19803774 · PMC2893889 · Twin research and human genetics : the official journal of the International Society for Twin Studies · 2009 · 7 claims · 5 setups
Postzygotic genomic alterations are not a common cause of monozygotic twin discordance for isolated cleft lip and/or palate.
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Application of OMICS technologies in occupational and environmental health research; current status and projections.
PMID 19933307 · PMC2910417 · Occupational and environmental medicine · 2010 · 8 claims · 6 setups
Five OMICS technologies are well established: genotyping, transcriptomics, epigenomics, proteomics, and metabolomics
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Utility of Triti-Map for bulk-segregated mapping of causal genes and regulatory elements in Triticeae.
PMID 35605195 · PMC9284283 · Plant communications · 2022 · 8 claims · 4 setups
Triti-Map is a computational package suite plus web interface specifically optimized for bulk-segregated gene mapping in Triticeae, accepting DNA-seq, RNA-seq/ChIP-seq, and traditional QTL data as input
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Mutation screening of HSF4 in 150 age-related cataract patients.
PMID 18941546 · PMC2569895 · Molecular vision · 2008 · 8 claims · 4 setups
Five new HSF4 sequence variants (c.1020-25G>A, c.1078A>G, c.1223C>T, c.1256+25C>T, c.1286C>T) were found in age-related cataract patients but not in 220 controls.
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Identification of disease causing loci using an array-based genotyping approach on pooled DNA.
PMID 16197552 · PMC1262713 · BMC genomics · 2005 · 8 claims · 5 setups
Pooling genomic DNA and genotyping on SNP microarrays accurately predicts allelic frequencies relative to individual genotyping
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Comprehensive search for intra- and inter-specific sequence polymorphisms among coding envelope genes of retroviral origin found in the human genome: genes and pseudogenes.
PMID 16150157 · PMC1236922 · BMC genomics · 2005 · 8 claims · 5 setups
HERV-W (envW) and HERV-FRD (envFRD) envelope genes, both specifically expressed in placenta, show strong sequence conservation with only two nonsynonymous SNPs identified across 91 individuals
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The brain-derived neurotrophic factor rs6265 (Val66Met) polymorphism and depression in Mexican-Americans.
PMID 17632285 · PMC2686836 · Neuroreport · 2007 · 7 claims · 4 setups
BDNF SNP rs6265 (Val66Met) is significantly associated with diagnosis of major depression in Mexican-Americans
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Genomic analysis of the clonal origins of relapsed acute lymphoblastic leukemia.
PMID 19039135 · PMC2746051 · Science (New York, N.Y.) · 2008 · 8 claims · 7 setups
Diagnosis and relapse ALL samples show different patterns of CNAs, with relapse-acquired abnormalities preferentially affecting cell cycle regulation and B-cell development genes
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High-density SNP genotyping to define beta-globin locus haplotypes.
PMID 18829352 · PMC4251776 · Blood cells, molecules & diseases · 2009 · 8 claims · 5 setups
RFLP analysis lacks sufficient site density/coverage to accurately reflect the genomic complexity of the β-locus
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Evaluating the performance of Affymetrix SNP Array 6.0 platform with 400 Japanese individuals.
PMID 18803882 · PMC2566316 · BMC genomics · 2008 · 8 claims · 5 setups
About 20% of the 909,622 SNPs on the SNP Array 6.0 are monomorphic in the Japanese population
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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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Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
PMID 18752264 · PMC2577713 · Human mutation · 2008 · 8 claims · 4 setups
40% (16/40) of WWS families in this diverse cohort received a molecular diagnosis with mutations in POMT1, POMT2, FKRP or FCMD