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 9

System / cell line: acid ✕ Assay: sift ✕ Clear

Sequence variation in G-protein-coupled receptors: analysis of single nucleotide polymorphisms.

PMID 15784611 · PMC1069129 · Nucleic acids research · 2005 · 7 claims · 8 setups

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Position-specific phylogenetic features describing evolutionary conservation at a site (e.g. SIFT score, normalized site entropy, residue frequency change) are the best individual discriminators of disease-causing versus neutral GPCR mutations.

dbsnp gpcr transmembrane sequence six-frame sift logistic
In silico analysis of missense substitutions using sequence-alignment based methods.

PMID 18951440 · PMC3431198 · Human mutation · 2008 · 8 claims · 7 setups

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Carefully validated PMSA-based computational algorithms can achieve predictive values of ~75-95% for classifying missense substitutions as pathogenic or neutral.

clinically sequence curated deep blosum62 sift align-gvgd
MutDB: update on development of tools for the biochemical analysis of genetic variation.

PMID 17827212 · PMC2238958 · Nucleic acids research · 2008 · 7 claims · 5 setups

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MutDB integrates dbSNP and Swiss-Prot genetic variation data with protein structural information, functional disruption prediction scores, and clinical phenotype links (OMIM, dbGAP)

proteins mutdb nonsynonymous genes sequence web functional
Functional analysis of novel SNPs and mutations in human and mouse genomes.

PMID 19091009 · PMC2638150 · BMC bioinformatics · 2008 · 8 claims · 7 setups

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FANS streamlines functional analysis of novel SNPs and mutations into a simplified, few-click, four-step procedure.

apoe 11-nucleotide sequence genomic manual automated exonic
Cataloging coding sequence variations in human genome databases.

PMID 18974781 · PMC2570488 · PloS one · 2008 · 8 claims · 7 setups

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A significant proportion of CVs overlap between HGMD and dbSNP (4.36% of HGMD CVs registered in dbSNP; 8.11% of dbSNP CVs registered in HGMD), warranting caution when interpreting phenotypic relevance of concurrent CVs.

coding hapmap concurrent nssnps database hapmap amino
Predicting the phenotypic effects of non-synonymous single nucleotide polymorphisms based on support vector machines.

PMID 18005451 · PMC2216041 · BMC bioinformatics · 2007 · 8 claims · 5 setups

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Parepro, an SVM-based method integrating three attribute sets (RD, MI, IE) derived from evolutionary and residue-property information, predicts whether an nsSNP is deleterious or neutral.

sequences target svm benchmark homology
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
A missense mutation in LIM2 causes autosomal recessive congenital cataract.

PMID 18596884 · PMC2442473 · Molecular vision · 2008 · 7 claims · 5 setups

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A homozygous missense mutation (Gly154Glu, c.587G>A) in LIM2 causes autosomal recessive congenital cataract in a human family

genomic mp19 patients pcr sscp cosegregation
Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.

PMID 18162506 · PMC7611804 · Diabetes · 2008 · 8 claims · 8 setups

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Heterozygous INS mutations are a common cause of permanent neonatal diabetes (PNDM) diagnosed before 6 months of age

peripheral patients mody young-onset pcr microsatellite variant

Experiments

Sequence variation in G-protein-coupled receptors: analysis of single nucleotide polymorphisms.

In silico analysis of missense substitutions using sequence-alignment based methods.

MutDB: update on development of tools for the biochemical analysis of genetic variation.

Functional analysis of novel SNPs and mutations in human and mouse genomes.

Cataloging coding sequence variations in human genome databases.

Predicting the phenotypic effects of non-synonymous single nucleotide polymorphisms based on support vector machines.

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

A missense mutation in LIM2 causes autosomal recessive congenital cataract.

Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.