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 16

System / cell line: mutation ✕ Assay: blast ✕ Clear

Genome wide identification of recessive cancer genes by combinatorial mutation analysis.

PMID 18846217 · PMC2557123 · PloS one · 2008 · 7 claims · 4 setups

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A combinatorial mutation analysis identified 154 candidate recessive cancer genes (pRecessiveCancer<1.5x10-7, FDR=0.39)

refseq tp53 tumor 154-gene est paired array
The functional importance of disease-associated mutation.

PMID 12220483 · PMC128831 · BMC bioinformatics · 2002 · 6 claims · 1 setups

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Disease-associated mutations occur in conserved regions of genes and can be used to identify likely disease-causing mutations

disease-associated sequence
Analysis of the human Alu Ye lineage.

PMID 15725352 · PMC554112 · BMC evolutionary biology · 2005 · 8 claims · 6 setups

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Two new Alu subfamilies, Ye4 and Ye6, were discovered, complementing the previously described Ye5 subfamily.

draft genomic non-human geographically blast sequence pcr
Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3.

PMID 11454237 · PMC34549 · BMC genetics · 2001 · 6 claims · 4 setups

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The desmuslin (DMN) gene was localized to chromosome 15q26.3 via electronic screening of the human genome database, and its 5-exon genomic organization was determined.

genomic electronic pcr pcr-restriction
Genome-wide analysis of the human Alu Yb-lineage.

PMID 15588477 · PMC3525081 · Human genomics · 2004 · 8 claims · 6 setups

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1,733 Alu Yb-lineage elements are present on human autosomal chromosomes

genome genomic non-human yb7 computational pcr-based pcr
SysPIMP: the web-based systematical platform for identifying human disease-related mutated sequences from mass spectrometry.

PMID 19036792 · PMC2686442 · Nucleic acids research · 2009 · 8 claims · 7 setups

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SysPIMP is a web-based platform integrating disease mutation databases with X!Tandem and BLAST to identify disease-related mutated proteins from MS results

omim pmd swissprot msipi database sequence tandem
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
Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.

PMID 18948357 · PMC3044481 · Journal of medical genetics · 2009 · 8 claims · 6 setups

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TGM1 germline mutations were identified in 55% (57/104) of patients with ARCI

arci unrelated dog direct sequence blast
A novel de novo PAX6 mutation in an Ashkenazi-Jewish family with aniridia.

PMID 18334930 · PMC2255027 · Molecular vision · 2008 · 7 claims · 5 setups

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A novel heterozygous de novo PAX6 frameshift mutation (c.577_578insG, insG@Gly72) in exon 6 causes autosomal dominant aniridia with congenital cataract, nystagmus, and glaucoma in this family.

genomic pax6 direct microsatellite blast
A spectrum of severe familial liver disorders associate with telomerase mutations.

PMID 19936245 · PMC2775683 · PloS one · 2009 · 7 claims · 8 setups

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Heterozygous telomerase loss-of-function mutations associate with, but are not deterministic of, a broad spectrum of hematologic and severe liver abnormalities.

leukocyte leukocytes reconstitution liver sanger flow telomerase
Human SNPs resulting in premature stop codons and protein truncation.

PMID 16595072 · PMC3500177 · Human genomics · 2006 · 8 claims · 6 setups

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Genome-wide screening of dbSNP identified 28 validated X-SNPs from 28 genes with known minor allele frequencies.

genome transcripts validated x-snp-encoded database blast exon-intron
hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.

PMID 17207965 · PMC4647941 · Genomics · 2007 · 8 claims · 7 setups

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hORFeome v3.1 is a resource of 12,212 cloned human ORFs representing 10,214 genes, a 51% expansion over hORFeome v1.1

mgc cloned orfs genome gateway orf blat
The pseudo-mitochondrial genome influences mistakes in heteroplasmy interpretation.

PMID 16859552 · PMC1538596 · BMC genomics · 2006 · 7 claims · 7 setups

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Numts co-amplified with mtDNA during PCR generate false heteroplasmic signals at specific nucleotide positions.

143b ffpe blood cloned southern pcr rt-pcr
PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.

PMID 16430766 · PMC1434729 · BMC medical genetics · 2006 · 7 claims · 8 setups

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Linkage analysis can pre-select which gene (PKD1 or PKD2) to screen for mutations in ADPKD families with sufficient samples

genomic pcr additional cat linkage direct heteroduplex
A highly polymorphic insertion in the Y-chromosome amelogenin gene can be used for evolutionary biology, population genetics and sexing in Cetacea and Artiodactyla.

PMID 18925953 · PMC2580767 · BMC genetics · 2008 · 8 claims · 6 setups

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A 460–465 bp insertion is present in intron 4 of the Amel-Y locus in most Cetartiodactyla lineages (cetaceans and ruminants) but absent in pig

cetacea amel-y amel-x cetartiodactyla pcr sanger molecular
SNAP: predict effect of non-synonymous polymorphisms on function.

PMID 17526529 · PMC1920242 · Nucleic acids research · 2007 · 7 claims · 8 setups

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SNAP, a neural network-based method using sequence-derived information, predicts whether a non-synonymous SNP is neutral or non-neutral for protein function

combined escherichia bacteriophage hiv-1 neural benchmark comparative

Experiments

Genome wide identification of recessive cancer genes by combinatorial mutation analysis.

The functional importance of disease-associated mutation.

Analysis of the human Alu Ye lineage.

Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3.

Genome-wide analysis of the human Alu Yb-lineage.

SysPIMP: the web-based systematical platform for identifying human disease-related mutated sequences from mass spectrometry.

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

Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.

A novel de novo PAX6 mutation in an Ashkenazi-Jewish family with aniridia.

A spectrum of severe familial liver disorders associate with telomerase mutations.

Human SNPs resulting in premature stop codons and protein truncation.

hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.

The pseudo-mitochondrial genome influences mistakes in heteroplasmy interpretation.

PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.

A highly polymorphic insertion in the Y-chromosome amelogenin gene can be used for evolutionary biology, population genetics and sexing in Cetacea and Artiodactyla.

SNAP: predict effect of non-synonymous polymorphisms on function.