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 20

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

SOP3v2: web-based selection of oligonucleotide primer trios for genotyping of human and mouse polymorphisms.

PMID 15980532 · PMC1160243 · Nucleic acids research · 2005 · 7 claims · 3 setups

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SOP 3 v2 is a web-based application that outputs recommended forward/reverse PCR primers plus a sequencing primer optimized for sequence-based genotyping of human and mouse polymorphisms

genomic ncbi laboratory primer genomic
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
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
Pooled DNA genotyping on Affymetrix SNP genotyping arrays.

PMID 16480507 · PMC1382214 · BMC genomics · 2006 · 7 claims · 4 setups

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Pooled genotyping on Affymetrix 10K arrays estimates allele frequency differences between pools with accuracy comparable to lower-throughput pooling platforms.

pools individual same parental pooled individual test-retest
Modeling genetic inheritance of copy number variations.

PMID 18832372 · PMC2588508 · Nucleic acids research · 2008 · 8 claims · 4 setups

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A joint HMM framework for parents-offspring trios significantly improves CNV call rates and boundary inference accuracy compared to existing methods.

simulated parent-offspring hapmap hmm-based snp genotype
Genes at human chromosome 5q31.1 regulate delayed-type hypersensitivity responses associated with Leishmania chagasi infection.

PMID 17713557 · PMC2435172 · Genes and immunity · 2007 · 7 claims · 8 setups

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SNPs in LECT2 and TGFBI show independent associations with the DTH+ phenotype, indicating two separate genes in this region control DTH+

blood family unrelated subjects snp family-based linkage
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
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
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
Examination of tetrahydrobiopterin pathway genes in autism.

PMID 19674121 · PMC2784255 · Genes, brain, and behavior · 2009 · 8 claims · 6 setups

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PTS (6-pyruvoyl-tetrahydropterin synthase) shows significant nominal association with autism (p=0.009), not restricted to affected-male-only subset

non-hispanic subset trios case snp two-point pedigree
The matrix metalloproteinase-3 (MMP-3) 5A/6A promoter polymorphism is not associated with ischaemic heart disease: analysis employing a family based approach.

PMID 15665388 · PMC3839324 · Disease markers · 2004 · 6 claims · 3 setups

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The MMP-3 -1612 5A/6A polymorphism is not associated with ischaemic heart disease in an Irish population.

peripheral family extended pcr-rflp combined pedigree
SNiPer: improved SNP genotype calling for Affymetrix 10K GeneChip microarray data.

PMID 16262895 · PMC1280925 · BMC genomics · 2005 · 8 claims · 5 setups

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Poorly performing SNPs (NoCall rate ≥25%) fail primarily due to inadequate training/localization of the MPAM statistical model call zone, not detection filter failure

genomic genotype genotyped chromosomal snp clustering mendelian
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
Detecting natural selection by empirical comparison to random regions of the genome.

PMID 19783549 · PMC2778377 · Human molecular genetics · 2009 · 8 claims · 5 setups

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Comparing candidate loci to empirically matched random genomic regions (ENCODE data) avoids the strong demographic/mutation assumptions required by theoretical neutral models and provides a robust test for selection

ceu genomic simulated long-read snp population
Recombination events restored the functional horned haplotypes in the offspring of polled parents.

PMID 41174470 · PMC12579413 · Genetics, selection, evolution : GSE · 2025 · 8 claims · 7 setups

Has reproduction · 98

In the Holstein-Friesian (HF) trio, the horned offspring arose from non-allelic homologous recombination in the gametes of the P_F/P_F sire.

trio fleckvieh whole-genome snp pcr-based
Function2Gene: a gene selection tool to increase the power of genetic association studies by utilizing public databases and expert knowledge.

PMID 18631403 · PMC2500032 · BMC bioinformatics · 2008 · 6 claims · 5 setups

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Function2Gene is a set of Perl programs that queries public databases (NCBI, GeneCards, Harvester, with Uniprot/Ensembl also supported) using expert-selected keywords to rank genes by prior probability of disease association.

gene nuclear sle tdt keyword-based snp transmission
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
Polymorphism discovery and association analyses of the interferon genes in type 1 diabetes.

PMID 16504056 · PMC1402321 · BMC genetics · 2006 · 7 claims · 8 setups

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No statistical evidence of a major association between T1D and any of the interferon or interferon-related genes tested (IFNA cluster, IFNB1, IFNW1, IFNG, ICSBP1)

t1d european warren resequencing database tag
Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies.

PMID 16254605 · PMC1270012 · PLoS genetics · 2005 · 8 claims · 6 setups

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Comparative net alignment of human and chimpanzee genome assemblies identifies 1,576 putative inverted regions covering more than 154 Mb of DNA

build chimpanzee unrelated ceph comparative three-color pcr
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

SOP3v2: web-based selection of oligonucleotide primer trios for genotyping of human and mouse polymorphisms.

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

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

Pooled DNA genotyping on Affymetrix SNP genotyping arrays.

Modeling genetic inheritance of copy number variations.

Genes at human chromosome 5q31.1 regulate delayed-type hypersensitivity responses associated with Leishmania chagasi infection.

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

Global variation in copy number in the human genome.

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

Examination of tetrahydrobiopterin pathway genes in autism.

The matrix metalloproteinase-3 (MMP-3) 5A/6A promoter polymorphism is not associated with ischaemic heart disease: analysis employing a family based approach.

SNiPer: improved SNP genotype calling for Affymetrix 10K GeneChip microarray data.

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

Detecting natural selection by empirical comparison to random regions of the genome.

Recombination events restored the functional horned haplotypes in the offspring of polled parents.

Function2Gene: a gene selection tool to increase the power of genetic association studies by utilizing public databases and expert knowledge.

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

Polymorphism discovery and association analyses of the interferon genes in type 1 diabetes.

Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies.

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.