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 418

System / cell line: genotyping ✕ Assay: analysis ✕ Clear

Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy.

PMID 19112530 · PMC2610289 · Molecular vision · 2008 · 8 claims · 5 setups

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Two novel heterozygous OPA1 mutations were identified: a splice-site mutation c.985-2A>G in family F1 and a nonsense mutation c.2197C>T (p.R733X) in family F2

genomic available leukocytes affected linkage pcr single
Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts.

PMID 18334953 · PMC2268897 · Molecular vision · 2008 · 8 claims · 6 setups

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A G61C (P.G61C) missense mutation in CRYGD causes autosomal dominant congenital coralliform cataracts in this family

four-generation genomic crygd wild-type genotyping direct denaturing
Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus.

PMID 18431453 · PMC2324116 · Molecular vision · 2008 · 7 claims · 5 setups

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Five novel FRMD7 mutations were identified in five of seven Chinese families with X-linked infantile nystagmus.

genomic affected patients linkage direct snp
Impact of genomics on animal agriculture and opportunities for animal health.

PMID 18022262 · PMC7114270 · Trends in biotechnology · 2008 · 8 claims · 7 setups

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Genomics tools (single-gene tests, SNP chips, genomic selection) will speed genetic improvement of livestock production traits

cattle chicken pig snp whole-genome transgenic
Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.

PMID 17764569 · PMC2072945 · BMC medical genetics · 2007 · 7 claims · 4 setups

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A nonsense mutation in CDK5RAP2 exon 4, correctly designated 246T>A (Y82X), was identified in all four affected individuals of a Pakistani family linked to MCPH3

pakistani affected unrelated one microsatellite sanger mutation
A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.

PMID 18958306 · PMC2573734 · Molecular vision · 2008 · 8 claims · 7 setups

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The disease locus maps to chromosome 3q21-25, linked to markers D3S2322 and D3S1541

four-generation bfsp2 wild-type microsatellite direct denaturing
A novel optineurin genetic mutation associated with open-angle glaucoma in a Chinese family.

PMID 19710941 · PMC2730747 · Molecular vision · 2009 · 8 claims · 3 setups

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A novel missense mutation A1274G (Lys322Glu) in exon 10 of OPTN was identified in affected members of the family

family peripheral patients microsatellite pcr clinical
A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin.

PMID 19674475 · PMC2736932 · BMC medical genetics · 2009 · 7 claims · 3 setups

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A Pakistani consanguineous family with three pycnodysostosis-affected individuals shows genetic linkage to the CTSK locus on chromosome 1q21

pakistani genomic microsatellite pcr acii
Genetic polymorphisms in monoamine neurotransmitter systems show only weak association with acute post-surgical pain in humans.

PMID 16848906 · PMC1543620 · Molecular pain · 2006 · 8 claims · 5 setups

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COMT SNP5 (rs740603, intron 1) shows significant association with maximum post-operative pain rating

surgical candidate haplotype allele
A Hidden Markov Model to estimate population mixture and allelic copy-numbers in cancers using Affymetrix SNP arrays.

PMID 17996079 · PMC2206057 · BMC bioinformatics · 2007 · 8 claims · 7 setups

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An HMM using paired germline genotype calls and tumour allelic SNP intensities can estimate allele-specific copy-numbers, distinguishing events like uniparental disomy from allelic imbalance.

hapmap bladder prostate simulated affymetrix simulation
Multiple epiphyseal dysplasia.

PMID 19995321 · PMC2823319 · Acta orthopaedica · 2009 · 8 claims · 4 setups

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An exon 3/intron 3 donor splice mutation (IVS3DS [+2] T>C) in COL9A2 was identified in all affected family members

family patients microsatellite sequencing clinical
A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family.

PMID 19038017 · PMC2611973 · BMC medical genetics · 2008 · 6 claims · 3 setups

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A novel 4-base insertion mutation (1114insGAGT) in exon 2 of CDMP1 underlies Grebe-type chondrodysplasia in this Pakistani family

peripheral genomic microsatellite direct mutation
A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families.

PMID 11506491 · PMC2364106 · British journal of cancer · 2001 · 8 claims · 2 setups

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All seven North American melanoma-prone families carrying V126D share a haplotype consistent with a single common founder/ancestor for the mutation

melanoma-prone haplotype microsatellite maximum
Genetic analysis of completely sequenced disease-associated MHC haplotypes identifies shuffling of segments in recent human history.

PMID 16440057 · PMC1331980 · PLoS genetics · 2006 · 7 claims · 6 setups

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Complete 4.25-Mb sequence of the QBL haplotype was determined by BAC shotgun sequencing and compared with PGF (reference) and COX haplotypes

qbl pgf classical ceph bac comparative gene
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
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
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
A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family.

PMID 20019893 · PMC2794658 · Molecular vision · 2009 · 7 claims · 7 setups

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A novel missense mutation c.92T>C (p.I31T) in GJA8 causes autosomal dominant congenital nuclear cataract in this Chinese family

family genomic unrelated gja8 clinical microsatellite sequencing
Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: results of genome-wide association analyses including 4659 European individuals.

PMID 20018283 · PMC2845297 · Atherosclerosis · 2010 · 8 claims · 7 setups

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The ADIPOQ locus is the only major gene locus for plasma adiponectin, reaching genome-wide significance in combined and sex-stratified analyses

population-based cohorts gwa plasma genome-wide replication candidate
Iterative pruning PCA improves resolution of highly structured populations.

PMID 19930644 · PMC2790469 · BMC bioinformatics · 2009 · 7 claims · 7 setups

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ipPCA is a novel algorithm that assigns individuals to subpopulations and infers the total number of subpopulations (K) present in genotypic data

simulated hapmap cattle shriver's simulated snp comparative

Experiments

Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy.

Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts.

Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus.

Impact of genomics on animal agriculture and opportunities for animal health.

Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.

A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.

A novel optineurin genetic mutation associated with open-angle glaucoma in a Chinese family.

A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin.

Genetic polymorphisms in monoamine neurotransmitter systems show only weak association with acute post-surgical pain in humans.

A Hidden Markov Model to estimate population mixture and allelic copy-numbers in cancers using Affymetrix SNP arrays.

Multiple epiphyseal dysplasia.

A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family.

A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families.

Genetic analysis of completely sequenced disease-associated MHC haplotypes identifies shuffling of segments in recent human history.

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

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

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

A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family.

Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: results of genome-wide association analyses including 4659 European individuals.

Iterative pruning PCA improves resolution of highly structured populations.