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 54

System / cell line: mutations ✕ Assay: classification ✕ Clear

CanPredict: a computational tool for predicting cancer-associated missense mutations.

PMID 17537827 · PMC1933186 · Nucleic acids research · 2007 · 8 claims · 7 setups

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CanPredict is a web application providing public access to a random forest classifier that combines SIFT, LogR.E-value, and GOSS scores to predict whether a missense mutation is cancer-associated

missense observed sjoblom refseq cross-validation recurrence comparative
Exhaustive prediction of disease susceptibility to coding base changes in the human genome.

PMID 18793467 · PMC2537574 · BMC bioinformatics · 2008 · 8 claims · 7 setups

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Inter-species conservation is the strongest single predictor of disease-associated coding mutations among the factors tested.

hgmd refseq aligned svm svm reciprocal inter-species
Cancer-specific high-throughput annotation of somatic mutations: computational prediction of driver missense mutations.

PMID 19654296 · PMC2763410 · Cancer research · 2009 · 7 claims · 7 setups

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CHASM, a Random Forest-based computational method, was developed to identify and prioritize missense mutations likely to be functional drivers of tumor cell proliferation.

missense same synthetic tp53 random support principal
BRAF mutations in non-Hodgkin's lymphoma.

PMID 14612909 · PMC2394455 · British journal of cancer · 2003 · 7 claims · 4 setups

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BRAF is somatically mutated in a subset of NHLs (4/164, 2.4%)

nhl reamplified haematoxylin-eosin-stained pcr-sscp sequencing microdissection
Mutations associated with HNPCC predisposition -- Update of ICG-HNPCC/INSiGHT mutation database.

PMID 15528792 · PMC3839397 · Disease markers · 2004 · 8 claims · 4 setups

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The ICG-HNPCC/INSiGHT mutation database has grown from 126 predisposing mutations (1997) to 448 mutations occurring in 748 families (2003 update)

hnpcc tumor yeast families germline microsatellite functional
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
Numbers of mutations to different types of colorectal cancer.

PMID 16202134 · PMC1266026 · BMC cancer · 2005 · 8 claims · 5 setups

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Different biologic subtypes of colorectal cancer require different numbers of oncogenic mutations before transformation

colorectal germline finnish seer microsatellite germline bayesian
Epidemiology of doublet/multiplet mutations in lung cancers: evidence that a subset arises by chronocoordinate events.

PMID 19005564 · PMC2579325 · PloS one · 2008 · 8 claims · 7 setups

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Doublet mutations are significantly more frequent in EGFR (6.0%) and TP53 (2.3%) in human lung cancer than spontaneous doublets in mouse lacI (0.7%), about 8-fold and 3-fold higher respectively.

egfr tp53 laci lung literature comparative statistical
Prediction by graph theoretic measures of structural effects in proteins arising from non-synonymous single nucleotide polymorphisms.

PMID 18654622 · PMC2447880 · PLoS computational biology · 2008 · 8 claims · 5 setups

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Bongo identifies mutations causing local and global structural effects with a remarkably low false positive rate

p53 1bpi mutations disease-associated graph correlation structural
Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer.

PMID 18627636 · PMC2575532 · Breast cancer research : BCR · 2008 · 8 claims · 5 setups

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27 deleterious BRCA1/BRCA2 mutations were detected in 28 breast cancer patients (14 in BRCA1, 13 in BRCA2) among 187 tested

blood-derived family brca1 direct multiplex boadicea
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene.

PMID 20057903 · PMC2802291 · Molecular vision · 2009 · 7 claims · 8 setups

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BEST1 mutations are not correlated with the severity of functional and clinical data in Best VMD patients

genomic unrelated best1 best1-4 direct chromosome pathogenicity
Extraction of human kinase mutations from literature, databases and genotyping studies.

PMID 19758464 · PMC2745582 · BMC bioinformatics · 2009 · 7 claims · 6 setups

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A literature mining pipeline combining MutationFinder, false-positive filtering, and SVM-based classification can extract and disambiguate single-point mutation mentions from abstracts and full text

pubmed large labeled swissprot literature supervised comparative
Using structural bioinformatics to investigate the impact of non synonymous SNPs and disease mutations: scope and limitations.

PMID 19758473 · PMC2745591 · BMC bioinformatics · 2009 · 8 claims · 8 setups

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None of 39 tested structural properties can be used as a sole classification criterion to separate neutral SNPs from disease mutations.

ensembl swissprot same structural foldx side
SNAP predicts effect of mutations on protein function.

PMID 18757876 · PMC2562009 · Bioinformatics (Oxford, England) · 2008 · 8 claims · 3 setups

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SNAP is a publicly available web-server implementation predicting functional effects (neutral/non-neutral) of single amino acid substitutions.

mutant insulin neural alanine mutation
Detection of p53 mutations in precancerous gastric tissue.

PMID 14520466 · PMC2394306 · British journal of cancer · 2003 · 8 claims · 6 setups

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p53 mutations can be detected in precancerous gastritis and intestinal metaplasia tissue using the restriction site mutation (RSM) assay

gastric enzyme-resistant gastritis pylori-positive restriction sequencing electron
Frameshift mutations in coding repeats of protein tyrosine phosphatase genes in colorectal tumors with microsatellite instability.

PMID 19000305 · PMC2586028 · BMC cancer · 2008 · 7 claims · 6 setups

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16 PTP candidate genes containing coding mononucleotide repeats (cMNR) of at least 7 units were identified via bioinformatic analysis and screened in MSI-H cell lines, cancers, and adenomas

msi-h genome colorectal fragment bioinformatic sequencing
DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.

PMID 18987736 · PMC2603574 · Nature · 2008 · 8 claims · 8 setups

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Whole genome sequencing can identify unbiased, novel somatic mutations in a cytogenetically normal AML genome that would not have been found by candidate-gene resequencing.

aml tumor novo additional genome snp comparative
CHEK2 mutations affecting kinase activity together with mutations in TP53 indicate a functional pathway associated with resistance to epirubicin in primary breast cancer.

PMID 18725978 · PMC2518116 · PloS one · 2008 · 7 claims · 6 setups

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TP53 mutations, especially those affecting the L2/L3 DNA-binding domains, are associated with resistance (progressive disease) to epirubicin therapy

snap-frozen tumor u-2-os patients pcr bisulphite loss
Sequence and structure signatures of cancer mutation hotspots in protein kinases.

PMID 19834613 · PMC2759519 · PloS one · 2009 · 8 claims · 6 setups

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Developed CKMD (Composite Kinase Mutation Database), an integrated bioinformatics resource mapping genetic variation in protein kinase genes to sequence, structural, and functional data

kinase common egfr autoinhibited database-driven structure-informed evolutionary
Analysis of BRCA1 and BRCA2 mutations in Brazilian breast cancer patients with positive family history.

PMID 16389418 · PMC11060407 · Sao Paulo medical journal = Revista paulista de medicina · 2005 · 8 claims · 2 setups

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BRCA1 or BRCA2 mutations were detected in 4 of 31 (13%) Brazilian breast cancer patients with positive family history

genomic single-strand direct

Experiments

CanPredict: a computational tool for predicting cancer-associated missense mutations.

Exhaustive prediction of disease susceptibility to coding base changes in the human genome.

Cancer-specific high-throughput annotation of somatic mutations: computational prediction of driver missense mutations.

BRAF mutations in non-Hodgkin's lymphoma.

Mutations associated with HNPCC predisposition -- Update of ICG-HNPCC/INSiGHT mutation database.

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

Numbers of mutations to different types of colorectal cancer.

Epidemiology of doublet/multiplet mutations in lung cancers: evidence that a subset arises by chronocoordinate events.

Prediction by graph theoretic measures of structural effects in proteins arising from non-synonymous single nucleotide polymorphisms.

Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer.

Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene.

Extraction of human kinase mutations from literature, databases and genotyping studies.

Using structural bioinformatics to investigate the impact of non synonymous SNPs and disease mutations: scope and limitations.

SNAP predicts effect of mutations on protein function.

Detection of p53 mutations in precancerous gastric tissue.

Frameshift mutations in coding repeats of protein tyrosine phosphatase genes in colorectal tumors with microsatellite instability.

DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.

CHEK2 mutations affecting kinase activity together with mutations in TP53 indicate a functional pathway associated with resistance to epirubicin in primary breast cancer.

Sequence and structure signatures of cancer mutation hotspots in protein kinases.

Analysis of BRCA1 and BRCA2 mutations in Brazilian breast cancer patients with positive family history.