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 86

System / cell line: test ✕ Assay: exon ✕ Clear

Identification of common genetic variation that modulates alternative splicing.

PMID 17571926 · PMC1904363 · PLoS genetics · 2007 · 7 claims · 8 setups

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Common SNPs located close to intron-exon boundaries are associated with and causally modulate alternative splicing patterns in human genes

ceph lcls skipped additional rt-pcr snp resequencing
Functional importance of different patterns of correlation between adjacent cassette exons in human and mouse.

PMID 18439302 · PMC2432081 · BMC genomics · 2008 · 8 claims · 7 setups

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Adjacent cassette exon pairs can be categorized by EST-derived correlation coefficient into three groups: mutually exclusive (ME, r<=-0.7), independent (IND, -0.2<=r<=0.2), and linked (LNK, r>=0.7)

human-mouse adjacent est genome splice
Using several pair-wise informant sequences for de novo prediction of alternatively spliced transcripts.

PMID 16925842 · PMC1810557 · Genome biology · 2006 · 8 claims · 4 setups

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MARS, an extension of the Twinscan algorithm, uses multiple pairwise informant genomes to predict human alternatively spliced transcripts de novo without expressed sequence information.

genome tissues novo pairwise rt-pcr
Germline truncating mutations in both MSH2 and BRCA2 in a single kindred.

PMID 14735197 · PMC2409581 · British journal of cancer · 2004 · 8 claims · 8 setups

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Kindred MON1080 carries germline truncating mutations in both MSH2 and BRCA2, with two family members being double heterozygotes

colonic astrocytoma breast microdissected immunohistochemistry microsatellite truncation
EGASP: the human ENCODE Genome Annotation Assessment Project.

PMID 16925836 · PMC1810551 · Genome biology · 2006 · 8 claims · 6 setups

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Best-performing computational gene prediction methods correctly predict at least one transcript for close to 70% of annotated genes in the ENCODE regions.

encode computational manual rt-pcr
Determination of point mutational spectra of benzo[a]pyrene-diol epoxide in human cells.

PMID 1486852 · PMC1519600 · Environmental health perspectives · 1992 · 5 claims · 4 setups

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A new protocol combining en masse 6-thioguanine-resistant mutant selection, high-fidelity PCR amplification, and DGGE separation can determine point mutational spectra in human cells with high precision and reproducibility

tk6 184-bp reconstruction point melting
Novel mutations in the BRCA1 and BRCA2 genes in Iranian women with early-onset breast cancer.

PMID 12100744 · PMC116720 · Breast cancer research : BCR · 2002 · 8 claims · 4 setups

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Germline BRCA1 and BRCA2 mutations are present in Iranian women with early-onset breast cancer, including four novel frameshift mutations

genomic pcr-amplified pcr truncation single-strand heteroduplex
Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension.

PMID 15661075 · PMC547905 · BMC medical genetics · 2005 · 8 claims · 7 setups

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Heterozygous carriage of common βENaC/γENaC variants (G589S, i12-17CT, V546I) is significantly more prevalent in essential hypertension patients (9.2%) than in normotensive males (2.9%) or blood donors (3.0%)

hypertensive lymphocytes βenac xenopus targeted pcr-rflp plasma
Anopheles gambiae genome reannotation through synthesis of ab initio and comparative gene prediction algorithms.

PMID 16569258 · PMC1557760 · Genome biology · 2006 · 8 claims · 7 setups

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An exon-gene-union (EGU) algorithm followed by an open-reading-frame-selection algorithm can synthesize ab initio (GENSCAN, GeneMark, SNAP) and comparative (Ensembl/Genewise) predictions into a single, more complete CDS set

anopheles gambiae reanocds05 initio full-length rt-pcr
Gene-expression patterns in peripheral blood classify familial breast cancer susceptibility.

PMID 26538066 · PMC4634735 · BMC medical genomics · 2015 · 8 claims · 5 setups

Has reproduction · 83

A multigene peripheral-blood gene-expression biomarker accurately classifies which women from high-risk families develop familial breast cancer.

peripheral pbmcs blood normal gene-expression lymphocyte gene
Screening of the Fc epsilon RI-beta-gene in a Swiss population of asthmatic children: no association with E237G and identification of new sequence variations.

PMID 10427478 · PMC3851081 · Disease markers · 1998 · 8 claims · 6 setups

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E237G shows no significant association with atopy or asthma in the Swiss population (3.7% in patients vs 2.6% in controls)

genomic extracted cdna patients pcr rt-pcr restriction
A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies.

PMID 12483017 · PMC3054970 · Journal of Korean medical science · 2002 · 7 claims · 5 setups

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A missense mutation (Arg1448Cys, R1448C) in SCN4A causes paramyotonia congenita in this Korean family

skeletal abductor genomic proband needle short muscle
Molecular analysis of X-linked chronic granulomatous disease in five unrelated Korean patients.

PMID 15082894 · PMC2822302 · Journal of Korean medical science · 2004 · 8 claims · 4 setups

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Five unrelated Korean X-linked CGD patients each carry a distinct CYBB gene mutation: c.1663insT, c.1111-1G>T, c.39_40insG, c.927delC, and c.434T>C

neutrophils genomic splice-site activated pcr-single sequencing
Divergence of exonic splicing elements after gene duplication and the impact on gene structures.

PMID 19883501 · PMC3091315 · Genome biology · 2009 · 8 claims · 7 setups

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ESEs and ESSs diverge especially fast shortly after gene duplication, correlating with time since duplication (Ks)

paralogous human-mouse duplicated comparative ortholog binomial
Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2.

PMID 10188893 · PMC2362698 · British journal of cancer · 1999 · 7 claims · 7 setups

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Presence of at least one ovarian cancer case in a small family strongly predicts finding a BRCA1 or BRCA2 mutation.

genomic pcr family truncation pcr multiplex
BRCA1 and BRCA2 mutations in central and southern Italian patients.

PMID 11056688 · PMC13918 · Breast cancer research : BCR · 2000 · 8 claims · 4 setups

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Deleterious germline BRCA1/BRCA2 mutations were detected in 11 of 136 (8%) unrelated Italian breast/ovarian cancer probands.

genomic peripheral truncation single-strand direct
BRCA1 and BRCA2 mutations in Turkish breast/ovarian families and young breast cancer patients.

PMID 10952777 · PMC2363542 · British journal of cancer · 2000 · 7 claims · 4 setups

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11 mutations (9 BRCA1, 2 BRCA2) were identified across 105 Turkish patients using combined PTT, sequencing, and heteroduplex analysis.

peripheral genomic truncation direct heteroduplex
Leveraging human genomic information to identify nonhuman primate sequences for expression array development.

PMID 16288651 · PMC1314899 · BMC genomics · 2005 · 8 claims · 6 setups

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Human genomic DNA sequence can be leveraged to obtain 3' end sequence of NHP orthologs, which can then be used to generate NHP oligonucleotide microarrays

refseq macaca genomic rhesus exon pcr molecular
Cystic fibrosis in Korean children:a case report identified by a quantitative pilocarpine iontophoresis sweat test and genetic analysis.

PMID 15716623 · PMC2808565 · Journal of Korean medical science · 2005 · 8 claims · 8 setups

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CF should be suspected in Korean/Asian children with chronic respiratory symptoms despite its rarity in Asian populations

korean family bronchial quantitative sweat cftr
Genetic variants of adiponectin receptor 2 are associated with increased adiponectin levels and decreased triglyceride/VLDL levels in patients with metabolic syndrome.

PMID 16700915 · PMC1482678 · Cardiovascular diabetology · 2006 · 8 claims · 6 setups

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A haplotype of three AdipoR2 variants (+795G/A, +870C/A, +963C/T) in perfect linkage disequilibrium is associated with higher plasma adiponectin levels and lower fasting triglyceride, VLDL-triglyceride, and VLDL-cholesterol levels

peripheral plasma subjects adipor1 sequencing plasma preparative

Experiments

Identification of common genetic variation that modulates alternative splicing.

Functional importance of different patterns of correlation between adjacent cassette exons in human and mouse.

Using several pair-wise informant sequences for de novo prediction of alternatively spliced transcripts.

Germline truncating mutations in both MSH2 and BRCA2 in a single kindred.

EGASP: the human ENCODE Genome Annotation Assessment Project.

Determination of point mutational spectra of benzo[a]pyrene-diol epoxide in human cells.

Novel mutations in the BRCA1 and BRCA2 genes in Iranian women with early-onset breast cancer.

Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension.

Anopheles gambiae genome reannotation through synthesis of ab initio and comparative gene prediction algorithms.

Gene-expression patterns in peripheral blood classify familial breast cancer susceptibility.

Screening of the Fc epsilon RI-beta-gene in a Swiss population of asthmatic children: no association with E237G and identification of new sequence variations.

A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies.

Molecular analysis of X-linked chronic granulomatous disease in five unrelated Korean patients.

Divergence of exonic splicing elements after gene duplication and the impact on gene structures.

Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2.

BRCA1 and BRCA2 mutations in central and southern Italian patients.

BRCA1 and BRCA2 mutations in Turkish breast/ovarian families and young breast cancer patients.

Leveraging human genomic information to identify nonhuman primate sequences for expression array development.

Cystic fibrosis in Korean children:a case report identified by a quantitative pilocarpine iontophoresis sweat test and genetic analysis.

Genetic variants of adiponectin receptor 2 are associated with increased adiponectin levels and decreased triglyceride/VLDL levels in patients with metabolic syndrome.