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).

Publications 1.3k Datasets 392.5k Experiments 6

System / cell line: trios ✕ Assay: microsatellite ✕ Clear

Mutation rate at commonly used forensic STR loci: paternity testing experience.

PMID 15665391 · PMC3839336 · Disease markers · 2004 · 8 claims · 2 setups

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Microsatellite (STR) loci mutate at a higher rate than bulk genomic DNA, causing interpretation problems in paternity testing.

parent edta str extraction
The NRG1 exon 11 missense variant is not associated with autism in the Central Valley of Costa Rica.

PMID 17519028 · PMC1888683 · BMC psychiatry · 2007 · 6 claims · 4 setups

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The NRG1 exon 11 missense variant (G>T) is not associated with autism in the CVCR.

blood genomic subjects trios taqman microsatellite clinical
Microsatellites and SNPs linkage analysis in a Sardinian genetic isolate confirms several essential hypertension loci previously identified in different populations.

PMID 19715579 · PMC2741446 · BMC medical genetics · 2009 · 8 claims · 6 setups

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Three loci (2q24, 11q23.1-25, 13q14.11-21.33) were identified by both the microsatellite and SNP genome-wide scans

talana volunteers same ogliastra genome-wide clinical genotype
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.

PMID 17052327 · PMC1626071 · BMC medical genetics · 2006 · 8 claims · 8 setups

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RSTS is caused by chromosomal microdeletions and point mutations in one copy of CREBBP (16p13.3), consistent with haploinsufficiency of this dosage-sensitive gene

peripheral patient-parent genomic crebbp karyotyping bac microsatellite
Construction and analysis of tag single nucleotide polymorphism maps for six human-mouse orthologous candidate genes in type 1 diabetes.

PMID 15720714 · PMC551616 · BMC genetics · 2005 · 7 claims · 5 setups

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None of the six candidate gene regions showed evidence of association with type 1 diabetes (all multi-locus/single-locus test P values > 0.2)

genomic case-control nramp1 type sanger snp microsatellite
Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.

PMID 18162506 · PMC7611804 · Diabetes · 2008 · 8 claims · 8 setups

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Heterozygous INS mutations are a common cause of permanent neonatal diabetes (PNDM) diagnosed before 6 months of age

peripheral patients mody young-onset pcr microsatellite variant

Experiments

Mutation rate at commonly used forensic STR loci: paternity testing experience.

The NRG1 exon 11 missense variant is not associated with autism in the Central Valley of Costa Rica.

Microsatellites and SNPs linkage analysis in a Sardinian genetic isolate confirms several essential hypertension loci previously identified in different populations.

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.

Construction and analysis of tag single nucleotide polymorphism maps for six human-mouse orthologous candidate genes in type 1 diabetes.

Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.