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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Shotgun haplotyping: a novel method for surveying allelic sequence variation.
PMID 16221968 · PMC1253838 · Nucleic acids research · 2005 · 8 claims · 7 setups
A novel shotgun haplotyping method generates haplotypic sequences from long PCR products by shotgun sequencing both alleles concurrently and using read-pair information to separate alleles during assembly
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Genome-wide survey of allele-specific splicing in humans.
PMID 18518984 · PMC2427040 · BMC genomics · 2008 · 8 claims · 5 setups
A genome-wide computational scan identified 30,977 SNPs located within predicted splicing regulatory sequences (donor sites, acceptor sites, branch points, and ESEs)
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Sequence diversity within the HA-1 gene as detected by melting temperature assay without oligonucleotide probes.
PMID 16202172 · PMC1260020 · BMC medical genetics · 2005 · 8 claims · 3 setups
HA-1 allele and genotype frequencies were determined in 131 unrelated Italian subjects (HA-1H=0.43, HA-1R=0.57), consistent with Hardy-Weinberg equilibrium and prior North American Caucasian data.
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Screening of common CYP1B1 mutations in Iranian POAG patients using a microarray-based PrASE protocol.
PMID 19096718 · PMC2603445 · Molecular vision · 2008 · 7 claims · 5 setups
CYP1B1 mutations are implicated in POAG among Iranians, notably in the juvenile-onset form
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Has reproduction · 66
Prime editing in mice reveals the essentiality of a single base in driving tissue-specific gene expression.
PMID 33722289 · PMC7962346 · Genome biology · 2021 · 7 claims · 8 setups
A three-base-pair (HDR) or single-base (PE2) substitution in the Tspan2 CArG box causes cell-specific loss of Tspan2 mRNA in aorta and bladder, but not heart or brain
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Chromosome-wide identification of novel imprinted genes using microarrays and uniparental disomies.
PMID 16855283 · PMC1524921 · Nucleic acids research · 2006 · 8 claims · 5 setups
Four novel brain-specific paternally expressed transcripts (BB077283, BM117114, AK080843, AV328498) were identified and validated on proximal Chr 7.
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Paternal imprinting of the SLC22A1LS gene located in the human chromosome segment 11p15.5.
PMID 15175115 · PMC425576 · BMC genetics · 2004 · 6 claims · 3 setups
The SLC22A1LS gene is paternally imprinted (i.e., only the maternal allele is expressed).
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Applications of Luminex xMAP technology for rapid, high-throughput multiplexed nucleic acid detection.
PMID 16102740 · PMC7124242 · Clinica chimica acta; international journal of clinical chemistry · 2006 · 6 claims · 7 setups
The Luminex xMAP system uses spectrally distinct dyed microspheres (up to 100 sets) read by dual lasers to enable simultaneous multiplexed analysis of up to 100 reactions in one vessel.
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A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan.
PMID 19014451 · PMC2592245 · BMC medical genetics · 2008 · 7 claims · 4 setups
A novel nonsense mutation c.1213C>T (p.Arg405X) in exon 11 of HSF4 causes autosomal recessive congenital cataracts in family BUIT-CA01
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Matrix-assisted laser desorption/ionisation, time-of-flight mass spectrometry in genomics research.
PMID 16895448 · PMC1523240 · PLoS genetics · 2006 · 8 claims · 8 setups
MALDI-TOF MS-based primer extension assays (hME, iPLEX) enable cost-effective, high-throughput multiplexed SNP genotyping
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Allelic drop-out may occur with a primer binding site polymorphism for the commonly used RFLP assay for the -1131T>C polymorphism of the Apolipoprotein AV gene.
PMID 16670016 · PMC1513378 · Lipids in health and disease · 2006 · 8 claims · 6 setups
A -987C>T polymorphism located 4bp from the 3' end of the MseI RFLP forward primer causes allelic drop-out, producing incorrect -1131T>C genotypes.
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DNA methylation profiling of the human major histocompatibility complex: a pilot study for the human epigenome project.
PMID 15550986 · PMC529316 · PLoS biology · 2004 · 8 claims · 3 setups
The human MHC methylation profile is strongly bimodal, with the vast majority of analysed regions being either hypo- (≤30%) or hypermethylated (≥70%)