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 52

System / cell line: unrelated ✕ Assay: allele ✕ Clear

Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.

PMID 19753312 · PMC2742639 · Molecular vision · 2009 · 7 claims · 4 setups

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Mutations responsible for over 30% of LCA cases in northern America were found in only 2.6% of LCA cases in a southern Indian cohort.

unrelated lca genomic allele-specific bidirectional electroretinogram
An evaluation of the performance of HapMap SNP data in a Shanghai Chinese population: analyses of allele frequency, linkage disequilibrium pattern and tagging SNPs transferability on chromosome 1q21-q25.

PMID 18302794 · PMC2292209 · BMC genetics · 2008 · 7 claims · 5 setups

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Among the four HapMap populations, CHB shows the best correlation with the Shanghai population on allele frequencies, LD, and haplotype frequencies

unrelated shanghai tsnps snp allele linkage
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

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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.

genomic sequence-specific direct melting
A novel mutation and phenotypes in phosphodiesterase 6 deficiency.

PMID 18723146 · PMC2593460 · American journal of ophthalmology · 2008 · 8 claims · 8 setups

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A high-throughput arRP genotyping microarray (APEX technology) combined with sequencing can efficiently identify disease-associated alleles across 17 arRP genes in RP patients

blood-extracted family 8-member pde6-deficient arrp direct pedigree
A hierarchical and modular approach to the discovery of robust associations in genome-wide association studies from pooled DNA samples.

PMID 18194558 · PMC2248205 · BMC genetics · 2008 · 8 claims · 5 setups

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A hierarchical/modular approach integrating quality control, LD, physical distance, and gene ontology identifies authentic associations among those found by statistical tests in pooled DNA GWAS

pooled sickle centenarian snp pooled gene
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

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Four novel JARID1C mutations (p.A77T, p.V504M, p.E468GfsX2, p.R1481GfsX9) were identified in males with mental retardation across three screened cohorts.

genomic family carrier jarid1c dhplc allele-specific restriction
Characterisation of the genomic architecture of human chromosome 17q and evaluation of different methods for haplotype block definition.

PMID 15850495 · PMC1090572 · BMC genetics · 2005 · 8 claims · 6 setups

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Haplotype block definitions based on LD measures (Definitions 1, 2, 3, 5) produce fewer, shorter blocks with limited sequence coverage compared to the haplotype diversity-based method (Definition 4)

unrelated same snps haplotype snp haplotype pairwise
Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish.

PMID 16515697 · PMC1448207 · BMC medical genetics · 2006 · 8 claims · 7 setups

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CMS compares IBS allele/genotype sharing between distantly related (beyond grandparental) affected and unaffected individuals from founder populations to detect disease loci while reducing confounding from population stratification and genetic heterogeneity.

amish unrelated same overall microsatellite combinatorial permutation
A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.

PMID 18246032 · PMC2267738 · Molecular vision · 2008 · 8 claims · 6 setups

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A novel c.812G>T transversion in exon 9 of FRMD7, causing p.C271F, is the causative mutation for XLICN in this family

affected family blood frmd7 microsatellite direct denaturing
Multiple polymorphisms, but no mutations, in the WAF1/CIP1 gene in human brain tumours.

PMID 7577473 · PMC2033923 · British journal of cancer · 1995 · 8 claims · 5 setups

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No somatic mutations of WAF1/CIP1 were found in 158 primary human brain tumours

reamplified same brain healthy sscp direct microsatellite
The genetics of regulatory variation in the human genome.

PMID 16004727 · PMC3525257 · Human genomics · 2005 · 8 claims · 7 setups

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Naturally-occurring gene expression variation among individuals is common across species (yeast, Drosophila, mouse, fish, maize, primates, humans) and has a significant genetic component.

ceph immortalised lymphoblastoid individuals reporter allelic microarray
Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease.

PMID 19949810 · PMC2865568 · Journal of neurology · 2010 · 7 claims · 4 setups

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CNVs are a rare cause of non-CMT1A Charcot-Marie-Tooth disease

unrelated genomic mtmr2 array quantitative sanger
Relation of candidate genes that encode for endothelial function to migraine and stroke: the Stroke Prevention in Young Women study.

PMID 19661472 · PMC2753702 · Stroke · 2009 · 8 claims · 6 setups

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EDN SNP rs1800542 is associated with increased ischemic stroke risk in Caucasian women

international spyw candidate haplotype population
Mutation analysis of the PTEN / MMAC1 gene in Japanese patients with Cowden disease.

PMID 10920277 · PMC5926416 · Japanese journal of cancer research : Gann · 2000 · 7 claims · 4 setups

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Sequencing of all PTEN/MMAC1 coding regions identified five different germline mutations, four of them novel, in 5 of 12 unrelated Japanese CD patients

genomic unaffected pcr targeted restriction
Characterization of the linkage disequilibrium structure and identification of tagging-SNPs in five DNA repair genes.

PMID 16091150 · PMC1208870 · BMC cancer · 2005 · 7 claims · 5 setups

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Three of the five DNA repair genes (MRE11A, RAD50, XRCC4) do not conform to a contiguous haplotype block structure; instead SNPs in high LD can be non-contiguous, fitting a more flexible LD group paradigm

unrelated same haplotype caucasian snp haplotype group
An efficient method for multi-locus molecular haplotyping.

PMID 17158153 · PMC1802573 · Nucleic acids research · 2007 · 7 claims · 6 setups

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A novel molecular haplotyping method using limiting dilution, aliquot pre-screening, and tiling reconstruction can resolve haplotypes spanning many loci over long distances from a single individual's DNA.

single agarose-embedded genotyping multiplexed monoplex primer-extension
HLA-A gene polymorphism defined by high-resolution sequence-based typing in 161 Northern Chinese Han people.

PMID 15629059 · PMC5172246 · Genomics, proteomics & bioinformatics · 2003 · 7 claims · 5 setups

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HLA-A gene shows high polymorphism in the Northern Chinese Han population, with 74 gene types and 36 alleles detected in 161 individuals

genomic ihwg peripheral allele sequence-based pcr sbt
Development of an integrated genome informatics, data management and workflow infrastructure: a toolbox for the study of complex disease genetics.

PMID 15601538 · PMC3525068 · Human genomics · 2004 · 8 claims · 8 setups

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An integrated system combining Ensembl, ACeDB, Gbrowse and custom relational databases provides a scalable genome informatics and workflow infrastructure for complex disease gene discovery.

pcr candidate embl clinical snp manual homology
Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia.

PMID 18237401 · PMC2276215 · Lipids in health and disease · 2008 · 8 claims · 4 setups

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Two distinct heterozygous frameshift mutations in CAV1 (I134fsdelA-X137 and -88delC) were identified in patients with atypical partial lipodystrophy and severe hypertriglyceridemia

genomic sequence restriction allele-specific
The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.

PMID 19926015 · PMC2880864 · Journal of the American College of Cardiology · 2009 · 8 claims · 6 setups

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Comprehensive open-reading-frame RYR2 mutational analysis reveals possible CPVT1 mutations located outside the three canonical hot-spot domains

genomic hair-root reference patients pcr screening multi-tissue

Experiments

Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.

An evaluation of the performance of HapMap SNP data in a Shanghai Chinese population: analyses of allele frequency, linkage disequilibrium pattern and tagging SNPs transferability on chromosome 1q21-q25.

Sequence diversity within the HA-1 gene as detected by melting temperature assay without oligonucleotide probes.

A novel mutation and phenotypes in phosphodiesterase 6 deficiency.

A hierarchical and modular approach to the discovery of robust associations in genome-wide association studies from pooled DNA samples.

Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.

Characterisation of the genomic architecture of human chromosome 17q and evaluation of different methods for haplotype block definition.

Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish.

A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.

Multiple polymorphisms, but no mutations, in the WAF1/CIP1 gene in human brain tumours.

The genetics of regulatory variation in the human genome.

Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease.

Relation of candidate genes that encode for endothelial function to migraine and stroke: the Stroke Prevention in Young Women study.

Mutation analysis of the PTEN / MMAC1 gene in Japanese patients with Cowden disease.

Characterization of the linkage disequilibrium structure and identification of tagging-SNPs in five DNA repair genes.

An efficient method for multi-locus molecular haplotyping.

HLA-A gene polymorphism defined by high-resolution sequence-based typing in 161 Northern Chinese Han people.

Development of an integrated genome informatics, data management and workflow infrastructure: a toolbox for the study of complex disease genetics.

Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia.

The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.