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 142

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

EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families.

PMID 17125505 · PMC1684249 · BMC medical genetics · 2006 · 6 claims · 3 setups

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A nonsense mutation c.1072C>T (p.Arg358X) in exon 12 of EDAR was identified in affected individuals from both Swedish families and is disease-specific

genomic patients dhplc pcr clinical
A comprehensive catalogue of somatic mutations from a human cancer genome.

PMID 20016485 · PMC3145108 · Nature · 2010 · 8 claims · 7 setups

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Whole-genome sequencing of COLO-829 melanoma cells and matched COLO-829BL normal cells produced the first comprehensive catalogue of somatic mutations from an individual cancer genome

colo-829 additional whole-genome conventional pcr
Mutations of the beta- and gamma-catenin genes are uncommon in human lung, breast, kidney, cervical and ovarian carcinomas.

PMID 11437403 · PMC2363927 · British journal of cancer · 2001 · 7 claims · 4 setups

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β-catenin and γ-catenin gene mutations are uncommon in human lung, breast, kidney, cervical and ovarian carcinomas

lung carcinoma lines pcr-sscp rt-pcr-sscp direct
Improving the specificity of exon prediction using comparative genomics.

PMID 18831778 · PMC2559877 · BMC genomics · 2008 · 8 claims · 6 setups

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A log-odds ratio scoring method based on codon conservation across human-mouse/human-dog alignments and adjacent-codon dependency can classify putative exons as coding vs non-coding.

human-mouse human-dog genome simulated comparative single-genome simulated
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
Medical sequencing of candidate genes for nonsyndromic cleft lip and palate.

PMID 16327884 · PMC1298935 · PLoS genetics · 2005 · 8 claims · 8 setups

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Point mutations in FOXE1, GLI2, JAG2, LHX8, MSX1, MSX2, SATB2, SKI, SPRY2, and TBX10 may be rare causes of isolated CL/P

family additional unrelated mutant direct linkage targeted
Core signaling pathways in human pancreatic cancers revealed by global genomic analyses.

PMID 18772397 · PMC2848990 · Science (New York, N.Y.) · 2008 · 8 claims · 6 setups

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Pancreatic cancers contain an average of 63 genetic alterations, the majority of which are point mutations

pancreatic computational targeted prevalence snp
Computer identification of snoRNA genes using a Mammalian Orthologous Intron Database.

PMID 16093549 · PMC1184218 · Nucleic acids research · 2005 · 8 claims · 5 setups

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Created the Mammalian Orthologous Intron Database (MOID) containing orthologous introns of human, mouse and rat identified via conserved reading-frame position

introns ribosomal rrna comparative orthologous pairwise
Reference based annotation with GeneMapper.

PMID 16600017 · PMC1557983 · Genome biology · 2006 · 7 claims · 6 setups

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GeneMapper transfers reference gene annotations to target genomes with higher accuracy than GeneWise and Projector

orthologous human-mouse chicken encode reference-based multi-species reciprocal
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
Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism.

PMID 18952485 · PMC2749264 · Parkinsonism & related disorders · 2009 · 5 claims · 3 setups

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The LRRK2 R1441H substitution has arisen on multiple independent occasions rather than from a single common founder

genomic haplotype direct full
Spontaneous symmetry breaking in genome evolution.

PMID 18367477 · PMC2377439 · Nucleic acids research · 2008 · 6 claims · 3 setups

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Exon size distributions in sequenced genomes follow a lognormal pattern typical of a random Kolmogoroff fractioning process

animal homo model genome-wide alternatively computational
A well-conserved Plasmodium falciparum var gene shows an unusual stage-specific transcript pattern.

PMID 12787360 · PMC2869446 · Molecular microbiology · 2003 · 8 claims · 8 setups

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Full-length var transcripts (detected by the complex var exon 2 probe) are present only in ring stages, not in pigmented trophozoites, across multiple parasite lines

falciparum red northern static rt-pcr
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
Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2.

PMID 19744353 · PMC2749023 · BMC medical genetics · 2009 · 8 claims · 6 setups

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Gross mutations (exon deletions and intragenic insertions) are a frequent, not rare, cause of AOA2

genomic peripheral setx sanger dosage long-range
Mutation analysis of 24 known cancer genes in the NCI-60 cell line set.

PMID 17088437 · PMC2705832 · Molecular cancer therapeutics · 2006 · 8 claims · 3 setups

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137 oncogenic mutations were identified across 14 of 24 screened cancer genes (APC, BRAF, CDKN2A, CTNNB1, HRAS, KRAS, NRAS, SMAD4, PIK3CA, PTEN, RB1, STK11, TP53, VHL) in the NCI-60 panel

nci-60 pcr multiplex snp
NCBI Reference Sequences: current status, policy and new initiatives.

PMID 18927115 · PMC2686572 · Nucleic acids research · 2009 · 7 claims · 5 setups

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RefSeq is a curated, non-redundant, explicitly linked database of nucleotide and protein sequences spanning genomes, transcripts and proteins across prokaryotes, eukaryotes and viruses

microbial bacterial prokaryotic refseq spliced structural functional
Prediction of Alzheimer's disease-specific phospholipase c gamma-1 SNV by deep learning-based approach for high-throughput screening.

PMID 33397809 · PMC7826347 · Proceedings of the National Academy of Sciences of the United States of America · 2021 · 7 claims · 7 setups

Has reproduction · 48

An AD-specific frameshift insertion SNV in exon 27 of mouse PLCγ1 causes abnormal exon skipping (exons 26-30) during mRNA maturation in 5xFAD cortex

cortex forebrain plcγ1 bulk rna-seq-based western
A temporal classifier predicts histopathology state and parses acute-chronic phasing in inflammatory bowel disease patients.

PMID 36694043 · PMC9873918 · Communications biology · 2023 · 8 claims · 8 setups

Has reproduction · 83

Disease-specific temporal (dynamic) gene expression and splicing signatures, distinct from fixed timepoint differential expression, can be derived from DSS and adoptive transfer colitis models to capture acute-chronic disease dynamics

colon blood distal ibd bulk qpcr histopathology
The genome of the ant Tetramorium bicarinatum reveals a tandem organization of venom peptides genes allowing the prediction of their regulatory and evolutionary profiles.

PMID 38245722 · PMC10800049 · BMC genomics · 2024 · 8 claims · 8 setups

Has reproduction · 100

44 venom peptide genes were identified, distributed across four of the eleven chromosomes and organized in tandem repeat clusters.

tetramorium bicarinatum vpg venom whole-genome blast gene

Experiments

EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families.

A comprehensive catalogue of somatic mutations from a human cancer genome.

Mutations of the beta- and gamma-catenin genes are uncommon in human lung, breast, kidney, cervical and ovarian carcinomas.

Improving the specificity of exon prediction using comparative genomics.

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.

Medical sequencing of candidate genes for nonsyndromic cleft lip and palate.

Core signaling pathways in human pancreatic cancers revealed by global genomic analyses.

Computer identification of snoRNA genes using a Mammalian Orthologous Intron Database.

Reference based annotation with GeneMapper.

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

Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism.

Spontaneous symmetry breaking in genome evolution.

A well-conserved Plasmodium falciparum var gene shows an unusual stage-specific transcript pattern.

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

Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2.

Mutation analysis of 24 known cancer genes in the NCI-60 cell line set.

NCBI Reference Sequences: current status, policy and new initiatives.

Prediction of Alzheimer's disease-specific phospholipase c gamma-1 SNV by deep learning-based approach for high-throughput screening.

A temporal classifier predicts histopathology state and parses acute-chronic phasing in inflammatory bowel disease patients.

The genome of the ant Tetramorium bicarinatum reveals a tandem organization of venom peptides genes allowing the prediction of their regulatory and evolutionary profiles.