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 174

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

PDA: Pooled DNA analyzer.

PMID 16643673 · PMC1539032 · BMC bioinformatics · 2006 · 8 claims · 4 setups

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No software existed prior to PDA for complete pooled-DNA analysis including data standardization, allele frequency estimation, and single/multipoint association tests

heterozygous pools ordered peak pooled single-point
Toward accurate high-throughput SNP genotyping in the presence of inherited copy number variation.

PMID 17608949 · PMC1934372 · BMC genomics · 2007 · 7 claims · 5 setups

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Developed a statistical model-fitting method to infer generalized (multi-allelic, copy-number-aware) genotypes from raw SNP microarray data

individuals mother-father-child transcribed snp quantitative multiplex
Adaptations to climate in candidate genes for common metabolic disorders.

PMID 18282109 · PMC2242814 · PLoS genetics · 2008 · 8 claims · 7 setups

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A network-based bioinformatics approach (Molecular Triangulation) was used to select 82 candidate genes belonging to the core subnetwork of metabolic syndrome phenotypes.

individuals population genic compiled snp spearman bayesian
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
An evaluation of the performance of tag SNPs derived from HapMap in a Caucasian population.

PMID 16532062 · PMC1391920 · PLoS genetics · 2006 · 8 claims · 5 setups

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CEU HapMap-derived tSNPs capture most of the genetic variation observed in the Estonian (EGP) population sample

individuals hapmap egp snp tag median-joining
CARAT: a novel method for allelic detection of DNA copy number changes using high density oligonucleotide arrays.

PMID 16504045 · PMC1402331 · BMC bioinformatics · 2006 · 8 claims · 5 setups

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CARAT is a novel algorithm that uses SNP probe intensity and genotype-based allelic dosage response in a regression framework to estimate allele-specific copy number genome-wide.

normal genomic sk-br-3 cancer snp quantitative allele-specific
Subarachnoid hemorrhage: tests of association with apolipoprotein E and elastin genes.

PMID 17672902 · PMC1950089 · BMC medical genetics · 2007 · 8 claims · 6 setups

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The major APOE haplotype (Hap1) is significantly associated with SAH

caucasian same genomic snp rflp genome
Evaluating the performance of commercial whole-genome marker sets for capturing common genetic variation.

PMID 17562002 · PMC1914356 · BMC genomics · 2007 · 8 claims · 5 setups

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Commercial SNP panels provide levels of coverage in a non-reference Caucasian (Estonian) population similar to those seen in the HapMap CEPH (CEU) population sample

estonian hapmap ceu snp tagsnp marker
Association between the catechol-O-methyltransferase Val158Met polymorphism and cocaine dependence.

PMID 18704099 · PMC2583214 · Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2008 · 8 claims · 4 setups

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The COMT Val158Met polymorphism is significantly associated with cocaine dependence in individuals of African descent.

cocaine-dependent duplicate genotype study snp genotype haplotype
A restricted spectrum of NRAS mutations causes Noonan syndrome.

PMID 19966803 · PMC3118669 · Nature genetics · 2010 · 8 claims · 6 setups

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Germline NRAS mutations (T50I, G60E) cause a subset of Noonan syndrome cases via enhanced MAPK activation

cohort cos-7 recombinant nras mutation western ras
Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene.

PMID 19714378 · PMC2854348 · Neurogenetics · 2010 · 8 claims · 5 setups

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A missense mutation (R560Q) in the SPAST gene's ATPase domain causes bovine spinal dysmyelination

cattle bovine coli affinity-purified snp reverse cdna
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 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
ABO exon and intron analysis in individuals with the AweakB phenotype reveals a novel O1v-A2 hybrid allele that causes four missense mutations in the A transferase.

PMID 14617382 · PMC305365 · BMC genetics · 2003 · 8 claims · 7 setups

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A novel O1v-A2 hybrid allele, containing four missense mutations, causes the A weak B phenotype in five individuals of African descent

genomic red computational abo sequencing blood
Evaluation of multiple displacement amplification in a 5 cM STR genome-wide scan.

PMID 16055919 · PMC1182175 · Nucleic acids research · 2005 · 7 claims · 5 setups

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MDA genotyping call rates and accuracy are only marginally lower than for genomic DNA

genomic same monozygotic subset genome-wide genome
Global variation in copy number in the human genome.

PMID 17122850 · PMC2669898 · Nature · 2006 · 8 claims · 6 setups

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A first-generation CNV map of the human genome was constructed from 270 HapMap individuals across four populations, identifying 1,447 CNV regions covering ~360 Mb (12%) of the genome.

hapmap subset blood snp array karyotyping
A novel procedure for genotyping of single nucleotide polymorphisms in trisomy with genomic DNA and the invader assay.

PMID 18940863 · PMC2602776 · Nucleic acids research · 2008 · 7 claims · 4 setups

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A novel Invader assay-based procedure can accurately determine SNP genotypes in trisomic genomic DNA samples in a simple, cost-effective manner

genomic same synthetic invader pyrosequencing hplc
Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.

PMID 18813951 · PMC4428656 · European journal of pediatrics · 2009 · 7 claims · 6 setups

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SLC26A4 mutations are the most prevalent cause of syndromic hereditary hearing loss (Pendred syndrome) in Iran

affected short pcr perchlorate
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
Comprehensive search for intra- and inter-specific sequence polymorphisms among coding envelope genes of retroviral origin found in the human genome: genes and pseudogenes.

PMID 16150157 · PMC1236922 · BMC genomics · 2005 · 8 claims · 5 setups

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HERV-W (envW) and HERV-FRD (envFRD) envelope genes, both specifically expressed in placenta, show strong sequence conservation with only two nonsynonymous SNPs identified across 91 individuals

genomic genotype 293t pcr-amplified pcr haplotype cell-cell

Experiments

PDA: Pooled DNA analyzer.

Toward accurate high-throughput SNP genotyping in the presence of inherited copy number variation.

Adaptations to climate in candidate genes for common metabolic disorders.

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

An evaluation of the performance of tag SNPs derived from HapMap in a Caucasian population.

CARAT: a novel method for allelic detection of DNA copy number changes using high density oligonucleotide arrays.

Subarachnoid hemorrhage: tests of association with apolipoprotein E and elastin genes.

Evaluating the performance of commercial whole-genome marker sets for capturing common genetic variation.

Association between the catechol-O-methyltransferase Val158Met polymorphism and cocaine dependence.

A restricted spectrum of NRAS mutations causes Noonan syndrome.

Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene.

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

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

ABO exon and intron analysis in individuals with the AweakB phenotype reveals a novel O1v-A2 hybrid allele that causes four missense mutations in the A transferase.

Evaluation of multiple displacement amplification in a 5 cM STR genome-wide scan.

Global variation in copy number in the human genome.

A novel procedure for genotyping of single nucleotide polymorphisms in trisomy with genomic DNA and the invader assay.

Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.

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.

Comprehensive search for intra- and inter-specific sequence polymorphisms among coding envelope genes of retroviral origin found in the human genome: genes and pseudogenes.