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 36

System / cell line: pcr ✕ Assay: ligation ✕ Clear

Detection of large deletions in the LDL receptor gene with quantitative PCR methods.

PMID 15842735 · PMC1087844 · BMC medical genetics · 2005 · 7 claims · 3 setups

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MLPA was cheaper, more accurate and more precise than Real-Time PCR for detecting LDL receptor gene deletions

genomic real-time multiplex long-range
Multiplex amplification of all coding sequences within 10 cancer genes by Gene-Collector.

PMID 17317684 · PMC1874629 · Nucleic acids research · 2007 · 7 claims · 7 setups

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Gene-Collector is a method for multiplex nucleic acid amplification that specifically circularizes only correctly paired (cognate) PCR primer products on a Collector probe, degrading non-cognate artifacts by exonuclease treatment.

genomic multiplex circularized circular multiplex probe-guided exonuclease
Additional EFNB1 mutations in craniofrontonasal syndrome.

PMID 18627045 · PMC2774847 · American journal of medical genetics. Part A · 2008 · 8 claims · 4 setups

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Loss-of-function mutations in EFNB1 (Xq13.1) are the cause of CFNS in the majority of patients

lymphoblastoid cfns patients additional pcr multiplex molecular
Description of a PCR-based technique for DNA splicing and mutagenesis by producing 5' overhangs with run through stop DNA synthesis utilizing Ara-C.

PMID 16137330 · PMC1208860 · BMC biotechnology · 2005 · 7 claims · 7 setups

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Two adjacent Ara-C molecules incorporated into a PCR primer produce mild template-dependent polymerization termination, generating 5' overhangs usable for cohesive-end ligation.

plasmid pcr gel-isolated ligated pcr gel ligation
Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).

PMID 18644145 · PMC2492855 · BMC medical genetics · 2008 · 8 claims · 6 setups

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Pathogenic REEP1 mutations were identified in 4.3% (7/162) of autosomal dominant 'pure' HSP cases

genomic pcr-amplified reep1 pcr dhplc direct
An integrative genomic and epigenomic approach for the study of transcriptional regulation.

PMID 18365023 · PMC2266992 · PloS one · 2008 · 8 claims · 7 setups

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Integrative analysis combining gene expression, DNA methylation, and H3K9 acetylation data reveals hundreds of additional differentially expressed genes missed by gene expression arrays alone

aml computational help chip-chip gene
MLGA--a rapid and cost-efficient assay for gene copy-number analysis.

PMID 17823203 · PMC2034490 · Nucleic acids research · 2007 · 8 claims · 4 setups

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MLGA is a novel selector-based technique using multiplex ligation-dependent circularization of genomic DNA fragments for copy-number analysis

pooled genomic aneuploid dog mlga
Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination.

PMID 18824584 · PMC2571921 · The Journal of experimental medicine · 2008 · 8 claims · 8 setups

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Homozygous deleterious PMS2 mutations are associated with a B cell-intrinsic CSR deficiency in three patients

pbls fibroblasts cd19+ rt-pcr genomic western
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
Protocol for assessing regulatory elements in murine heart using an AAV9-based massively parallel reporter assay.

PMID 40252222 · PMC12033988 · STAR protocols · 2025 · 8 claims · 5 setups

Has reproduction · 93

An AAV9-based in vivo MPRA (AAV-MPRA) workflow, combined with a companion informatics platform, can dissect and quantify enhancer activity in mouse heart.

agilent stbl3 hek293t wild-type self-annealing restriction plasmid
Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.

PMID 17076561 · PMC1626556 · PLoS medicine · 2006 · 6 claims · 7 setups

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Affected members of a previously genetically unsolved aHUS family carry a heterozygous CFH/CFHL1 hybrid gene (exons 1-21 from CFH, exons 22/23 from CFHL1)

peripheral genomic convalescent cdna genomic breakpoint-spanning
Hypomethylation and expression of BEX2, IGSF4 and TIMP3 indicative of MLL translocations in acute myeloid leukemia.

PMID 19835597 · PMC2770485 · Molecular cancer · 2009 · 8 claims · 8 setups

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MLL-mutant (MLL mu) AML cell lines show significantly lower TSG promoter methylation than MLL wild-type (MLL wt) AML cell lines

acute mll lines bone ms-mlpa hhai methylation-specific
Multiplex amplification enabled by selective circularization of large sets of genomic DNA fragments.

PMID 15860768 · PMC1087789 · Nucleic acids research · 2005 · 8 claims · 4 setups

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Selector oligonucleotides can circularize many distinct genomic restriction fragments in one reaction, enabling parallel amplification with a single universal primer pair instead of multiple target-specific primer pairs

genomic 7776-clone selector-based cdna restriction
Hyb: a bioinformatics pipeline for the analysis of CLASH (crosslinking, ligation and sequencing of hybrids) data.

PMID 24211736 · PMC3969109 · Methods (San Diego, Calif.) · 2014 · 8 claims · 6 setups

Has reproduction · 71

The 'hyb' pipeline detects, calls, folds and annotates chimeric reads from CLASH high-throughput sequencing data.

ago1 test clash multiplexed clash benchmarking demultiplexing
Significance of the parkin and PINK1 gene in Jordanian families with incidences of young-onset and juvenile parkinsonism.

PMID 19087301 · PMC2635385 · BMC neurology · 2008 · 8 claims · 8 setups

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A parkin exon 4 deletion segregates with disease in a three-generation family (Family F), homozygous in both affected individuals

consanguineous same affected family sanger multiplex microsatellite
A small-cell lung cancer genome with complex signatures of tobacco exposure.

PMID 20016488 · PMC2880489 · Nature · 2010 · 8 claims · 7 setups

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22,910 somatic substitutions, including 132 in coding exons, were identified genome-wide in the NCI-H209 SCLC genome.

nci-h209 sclc lu-135 massively pcr multiplex
NeMeSys: a biological resource for narrowing the gap between sequence and function in the human pathogen Neisseria meningitidis.

PMID 19818133 · PMC2784325 · Genome biology · 2009 · 8 claims · 5 setups

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Determined and manually annotated the complete genome sequence of N. meningitidis clinical isolate strain 8013

meningitidis archived strain neisseria whole-genome transposon targeted
Loss of heterozygosity at 2q37 in sporadic Wilms' tumor: putative role for miR-562.

PMID 19789318 · PMC2756455 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2009 · 8 claims · 8 setups

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2q37 harbors a tumor suppressor gene important in Wilms tumor pathogenesis

sporadic wilms fetal 293t loh multiplex genome-wide
Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism.

PMID 19720790 · PMC2780873 · Diabetes · 2009 · 7 claims · 8 setups

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INSR is disrupted by the chromosome 19 breakpoint, causing INSR haploinsufficiency (monoallelic expression) that explains the insulin resistance/dysglycemia phenotype

metaphase genomic ebv-transformed serum fluorescence multiplex sanger
Cohesin regulates alternative splicing.

PMID 36857449 · PMC9977177 · Science advances · 2023 · 7 claims · 8 setups

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Cohesin regulates alternative splicing independently of its effects on transcription.

hct116rmac hct116 recombinant hek293 bulk rt-pcr proximity

Experiments

Detection of large deletions in the LDL receptor gene with quantitative PCR methods.

Multiplex amplification of all coding sequences within 10 cancer genes by Gene-Collector.

Additional EFNB1 mutations in craniofrontonasal syndrome.

Description of a PCR-based technique for DNA splicing and mutagenesis by producing 5' overhangs with run through stop DNA synthesis utilizing Ara-C.

Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).

An integrative genomic and epigenomic approach for the study of transcriptional regulation.

MLGA--a rapid and cost-efficient assay for gene copy-number analysis.

Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination.

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

Protocol for assessing regulatory elements in murine heart using an AAV9-based massively parallel reporter assay.

Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.

Hypomethylation and expression of BEX2, IGSF4 and TIMP3 indicative of MLL translocations in acute myeloid leukemia.

Multiplex amplification enabled by selective circularization of large sets of genomic DNA fragments.

Hyb: a bioinformatics pipeline for the analysis of CLASH (crosslinking, ligation and sequencing of hybrids) data.

Significance of the parkin and PINK1 gene in Jordanian families with incidences of young-onset and juvenile parkinsonism.

A small-cell lung cancer genome with complex signatures of tobacco exposure.

NeMeSys: a biological resource for narrowing the gap between sequence and function in the human pathogen Neisseria meningitidis.

Loss of heterozygosity at 2q37 in sporadic Wilms' tumor: putative role for miR-562.

Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism.

Cohesin regulates alternative splicing.