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 171

System / cell line: variant ✕ Assay: genomic ✕ Clear

Direct resequencing of the complete ERBB2 coding sequence reveals an absence of activating mutations in ERBB2 amplified breast cancer.

PMID 18418848 · PMC6668724 · Genes, chromosomes & cancer · 2008 · 6 claims · 5 setups

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Emulsion PCR combined with picotiter plate pyrosequencing (454 sequencing) enables high-resolution, high-throughput detection of low-frequency sequence variants among the many individual copies of an amplified gene.

erbb2-amplified erbb2-positive plasmid cos-7 emulsion serial immune-complex
Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change.

PMID 17359525 · PMC1838427 · BMC molecular biology · 2007 · 8 claims · 8 setups

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OPTC is a candidate gene involved in POAG pathogenesis

genomic pcr optc retinal pcr-sscp dhplc sequencing
Optineurin coding variants in Ghanaian patients with primary open-angle glaucoma.

PMID 19096531 · PMC2605106 · Molecular vision · 2008 · 8 claims · 4 setups

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OPTN coding variant allele frequencies do not differ significantly between POAG cases and controls in the Ghanaian population.

genomic ghanaian pcr taqman logistic
The spectrum of ATM missense variants and their contribution to contralateral breast cancer.

PMID 17393301 · PMC2137941 · Breast cancer research and treatment · 2008 · 6 claims · 3 setups

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ATM missense variant frequency does not differ significantly between CBC and UBC patients, indicating no major impact on overall CBC risk

germline breast denaturing sanger case-control
A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan.

PMID 17187665 · PMC1764029 · BMC neurology · 2006 · 6 claims · 4 setups

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The G2385R variant in LRRK2 contributes significantly to the etiology of PD in ethnic Han Chinese individuals

peripheral g2385r patients genotype pcr full clinical
Completing the map of human genetic variation.

PMID 17495918 · PMC2685471 · Nature · 2007 · 8 claims · 5 setups

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A community resource initiative will sequence fosmid and BAC clone libraries from 62 HapMap individuals to systematically discover and resolve structural genetic variants at nucleotide resolution

genomic fosmid full hapmap paired targeted genotyping
Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia.

PMID 19112531 · PMC2610290 · Molecular vision · 2008 · 8 claims · 4 setups

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A novel STRA6 missense variant (p.G217E, exon 8) and a novel STRA6 nonsense variant (p.Q592X, exon 18) were identified in one A/M subject and absent from 89 controls, implicating STRA6 in this subject's A/M phenotype.

genomic stra6 direct variant
Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes.

PMID 18648522 · PMC2480479 · Molecular vision · 2008 · 8 claims · 4 setups

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A rare CHX10 missense variant (c.728G>A, Gly243Asp) was identified in one PACG patient and absent in 215 controls, and is a possible disease-causing variant

genomic same chx10 pacg pcr case-control cross-species
Search for genetic variants in the p66Shc longevity gene by PCR-single strand conformational polymorphism in patients with early-onset cardiovascular disease.

PMID 16519809 · PMC1420326 · BMC genetics · 2006 · 7 claims · 2 setups

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p66Shc gene increases intracellular reactive oxygen species (ROS), affecting the rate of oxidative damage to nucleic acids

genomic pcr-single direct
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
Protective effect of paraoxonase 1 gene variant Gln192Arg in age-related macular degeneration.

PMID 20042177 · PMC3026437 · American journal of ophthalmology · 2010 · 6 claims · 4 setups

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The Gln192Arg PON1 polymorphism is associated with decreased susceptibility to AMD, particularly wet AMD, indicating a protective effect

genomic pcr-amplified case-control pon1 single-strand direct genetic
The UCSC Genome Browser database: update 2010.

PMID 19906737 · PMC2808870 · Nucleic acids research · 2010 · 8 claims · 5 setups

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The UCSC Genome Browser provides a large database of publicly available sequence and annotation data with an integrated tool set for examining, comparing, aligning, and displaying genomes

genome vertebrate individuals personal snp sequence genome-wide
Variation in conserved non-coding sequences on chromosome 5q and susceptibility to asthma and atopy.

PMID 16336695 · PMC1325232 · Respiratory research · 2005 · 6 claims · 8 setups

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There is overall little sequence variation in the conserved non-coding elements (CNEs) on 5q31, including none detected in CNE-B/CNS-1

genomic pcr large outbred comparative denaturing pcr
Integrating genomic based information into clinical warfarin (Coumadin) management: an illustrative case report.

PMID 18763667 · PMC3696193 · Connecticut medicine · 2008 · 8 claims · 6 setups

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Combined CYP2C9 and VKORC1 genotype can explain up to 45% of warfarin dose variability

genomic edta plasma cardiac genotyping extraction inr
Microdroplet-based PCR enrichment for large-scale targeted sequencing.

PMID 19881494 · PMC2779736 · Nature biotechnology · 2009 · 7 claims · 5 setups

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Microdroplet PCR enables massively parallel singleplex amplification (up to ~1.5 million reactions, up to 4,000 targets) for targeted sequencing enrichment

genomic single targeted scale-up variant
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.

PMID 19881469 · PMC4511341 · Journal of human genetics · 2009 · 8 claims · 6 setups

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Screening all 72 exons of USH2A (long isoform) identifies significantly more mutations than screening only the short-isoform exons 1-21

genomic ush2 ush2a sscp audiological ophthalmological
PCR-free method detects high frequency of genomic instability in prostate cancer.

PMID 19797393 · PMC2794161 · Nucleic acids research · 2009 · 7 claims · 6 setups

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A novel PCR-free random cloning/sequencing method can detect genomic variants that PCR-based approaches miss in heterogeneous tumor genomes.

blood normal prostate matched pcr-free degenerate-pcr blastn
Evaluating sequence data quality from the Swift Accel-Amplicon CFTR Panel.

PMID 31913291 · PMC6949293 · Scientific data · 2020 · 6 claims · 7 setups

Has reproduction · 89

The Accel-Amplicon CFTR panel generates sequencing data with high coverage depth and near 100% on-target reads.

genomic adapted aligned pcr amplicon multiplex qpcr
High frequency of the IVS2-2A>G DNA sequence variation in SLC26A5, encoding the cochlear motor protein prestin, precludes its involvement in hereditary hearing loss.

PMID 16086836 · PMC1190179 · BMC medical genetics · 2005 · 8 claims · 6 setups

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IVS2-2A>G allele frequency does not differ significantly between hearing-impaired cases and controls among Hispanics and Caucasians (p=0.45)

genomic mitochondrial slc26a5 pcr sequence splice
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.

PMID 15756302 · PMC2673054 · European journal of human genetics : EJHG · 2005 · 8 claims · 4 setups

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COMP mutations were identified in 78% of families referred with PSACH

genomic sequence subset pcr bidirectional sequence

Experiments

Direct resequencing of the complete ERBB2 coding sequence reveals an absence of activating mutations in ERBB2 amplified breast cancer.

Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change.

Optineurin coding variants in Ghanaian patients with primary open-angle glaucoma.

The spectrum of ATM missense variants and their contribution to contralateral breast cancer.

A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan.

Completing the map of human genetic variation.

Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia.

Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes.

Search for genetic variants in the p66Shc longevity gene by PCR-single strand conformational polymorphism in patients with early-onset cardiovascular disease.

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

Protective effect of paraoxonase 1 gene variant Gln192Arg in age-related macular degeneration.

The UCSC Genome Browser database: update 2010.

Variation in conserved non-coding sequences on chromosome 5q and susceptibility to asthma and atopy.

Integrating genomic based information into clinical warfarin (Coumadin) management: an illustrative case report.

Microdroplet-based PCR enrichment for large-scale targeted sequencing.

Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.

PCR-free method detects high frequency of genomic instability in prostate cancer.

Evaluating sequence data quality from the Swift Accel-Amplicon CFTR Panel.

High frequency of the IVS2-2A>G DNA sequence variation in SLC26A5, encoding the cochlear motor protein prestin, precludes its involvement in hereditary hearing loss.

COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.