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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Leveraging human genomic information to identify nonhuman primate sequences for expression array development.
PMID 16288651 · PMC1314899 · BMC genomics · 2005 · 8 claims · 6 setups
Human genomic DNA sequence can be leveraged to obtain 3' end sequence of NHP orthologs, which can then be used to generate NHP oligonucleotide microarrays
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Evolution of variants of yeast site-specific recombinase Flp that utilize native genomic sequences as recombination target sites.
PMID 17003057 · PMC1635253 · Nucleic acids research · 2006 · 8 claims · 8 setups
Stepwise directed evolution using chimeric FLRT (FRT/genomic hybrid) intermediate sites can generate Flp variants capable of recombining native genomic FRT-like sequences from the human IL10 gene (FL-IL10A, FL-IL10B).
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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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Development of lead hammerhead ribozyme candidates against human rod opsin mRNA for retinal degeneration therapy.
PMID 19094986 · PMC3388947 · Experimental eye research · 2009 · 8 claims · 3 setups
Three lead hhRz candidates (CUC↓266, CUC↓1411, AUA↓1414) significantly knock down human RHO protein expression relative to control (p<0.05)
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Molecular genetics and structural genomics of the human protein kinase C gene module.
PMID 11897026 · PMC88812 · Genome biology · 2002 · 8 claims · 4 setups
The nine human PKC genes are dispersed throughout the genome, with five isotypes (α, β, δ, ζ, ι) previously incorrectly assigned to chromosomes in the literature.
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Biologic diversity of polyomavirus BK genomic sequences: Implications for molecular diagnostic laboratories.
PMID 18712842 · PMC2906129 · Journal of medical virology · 2008 · 8 claims · 5 setups
Coverage of naturally occurring BKV strains varies substantially among current PCR diagnostic assays due to primer/probe mismatches
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Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.
PMID 19023448 · PMC2584772 · Molecular vision · 2008 · 8 claims · 7 setups
Mutations in USH2A are responsible for most cases of USH2
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Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.
PMID 18697827 · PMC3711528 · Journal of medical genetics · 2008 · 8 claims · 8 setups
Four novel JARID1C mutations (p.A77T, p.V504M, p.E468GfsX2, p.R1481GfsX9) were identified in males with mental retardation across three screened cohorts.
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Implication of BRCA2 -26G>A 5' untranslated region polymorphism in susceptibility to sporadic breast cancer and its modulation by p53 codon 72 Arg>Pro polymorphism.
PMID 17945002 · PMC2242669 · Breast cancer research : BCR · 2007 · 8 claims · 7 setups
-26G>A polymorphism in the BRCA2 5' UTR is functional: the A allele drives roughly twice the reporter gene expression of the G allele in MCF-7 and HeLa cells
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Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.
PMID 18204449 · PMC2684619 · Nature genetics · 2008 · 8 claims · 8 setups
Mutations in GLE1, an mRNA export mediator, cause LCCS1
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Bases and spaces: resources on the web for accessing the draft human genome.
PMID 11178254 · PMC138875 · Genome biology · 2000 · 8 claims · 8 setups
By combining currently available genomic databases and mapping resources (GenBank/Entrez, UniGene, RH maps, BAC fingerprint maps, Ensembl, NIX), it is possible to devise strategies that fully exploit the fragmentary draft human genome sequence.
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No germline mutations in supposed tumour suppressor genes SAFB1 and SAFB2 in familial breast cancer with linkage to 19p.
PMID 19077293 · PMC2635354 · BMC medical genetics · 2008 · 8 claims · 5 setups
SAFB1 and SAFB2 had previously been proposed as tumour suppressor genes in breast cancer based on functional properties (ERα repression) and loss of heterozygosity in tumours
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An optimized procedure for the design and evaluation of Ecotilling assays.
PMID 18973671 · PMC2586031 · BMC genomics · 2008 · 8 claims · 7 setups
An optimized procedure integrating Vector NTI, Ensembl, Genomatix Suite, GelBuddy, and sequencing/functional-prediction tools streamlines the design, evaluation and interpretation of human Ecotilling assays
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Has reproduction · 69
A comparison across non-model animals suggests an optimal sequencing depth for de novo transcriptome assembly.
PMID 23496952 · PMC3655071 · BMC genomics · 2013 · 8 claims · 8 setups
Representative de novo transcriptome assemblies are generated with as few as ~20 million reads for single-tissue samples and ~30 million reads for whole animals at the mRNA-coverage level.
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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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Methylation of class II transactivator gene promoter IV is not associated with susceptibility to multiple sclerosis.
PMID 18606010 · PMC2464579 · BMC medical genetics · 2008 · 6 claims · 4 setups
Methylation of the MHC2TA promoter pIV is not associated with MS susceptibility; no methylation was detected in any twin sample regardless of disease status
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Has reproduction · 78
Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage.
PMID 32367296 · PMC7419486 · Journal of neurology · 2020 · 8 claims · 6 setups
Sequence variants in PCNT, RNF213 and THSD1 support a role as susceptibility factors for cerebrovascular disease (UIA/aSAH)
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Evaluation of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 genes in familial colorectal cancer predisposition.
PMID 17029639 · PMC1624846 · BMC cancer · 2006 · 6 claims · 4 setups
Coding sequences and intron-exon boundaries of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 were screened in 94 familial CRC cases with known genes excluded
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New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.
PMID 19686598 · PMC2736583 · BMC medical genetics · 2009 · 8 claims · 7 setups
DGGE screening of the non-duplicated PKD1 region detects likely pathogenic mutations in Czech ADPKD patients
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Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval.
PMID 18510646 · PMC2689154 · Annals of human genetics · 2008 · 7 claims · 5 setups
Direct sequencing of 43 candidate genes in 7 Spanish arRP families identified 244 sequence variants (76 novel), none pathogenic, excluding these genes as disease-causing.