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 483

System / cell line: variants ✕ Clear

A space-efficient and accurate method for mapping and aligning cDNA sequences onto genomic sequence.

PMID 18344523 · PMC2377433 · Nucleic acids research · 2008 · 7 claims · 6 setups

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Spaln maps and aligns large cDNA sequence sets onto whole mammalian genomes using substantially less memory than comparable existing tools

unigene shuffled real genomes genome-wide alignment gene
Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis.

PMID 18334959 · PMC2268850 · Molecular vision · 2008 · 7 claims · 5 setups

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A homozygous c.955G>A mutation at the last base of exon 6 of LCA5 disrupts the normal splice donor site.

genomic lca5 lymphocyte affected snp sanger splice
mtDNA nt13708A variant increases the risk of multiple sclerosis.

PMID 18270557 · PMC2217590 · PloS one · 2008 · 8 claims · 5 setups

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The mtDNA nt13708 G/A polymorphism (nt13708A allele) is significantly associated with increased risk of MS (OR=1.71, P=0.0002) across three well-matched European cohorts.

peripheral pooled mtdna snp meta-analysis complete
A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series.

PMID 18234697 · PMC2577762 · Brain : a journal of neurology · 2008 · 8 claims · 7 setups

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Five different pathogenic GRN mutations (frameshift/premature termination) were identified in 25 affected members of a large UK FTLD cohort, with no whole-gene deletions detected

ftld grn genomic post-mortem clinical volumetric direct
Protective effect of paraoxonase 1 gene variant Gln192Arg in age-related macular degeneration.

PMID 20042177 · PMC3026437 · American journal of ophthalmology · 2010 · 6 claims · 4 setups

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The Gln192Arg PON1 polymorphism is associated with decreased susceptibility to AMD, particularly wet AMD, indicating a protective effect

genomic pcr-amplified case-control pon1 single-strand direct genetic
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.

PMID 20037586 · PMC2812627 · Nature genetics · 2010 · 8 claims · 8 setups

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Heterozygous missense mutations in TRPV4 (c.805C>T/R269C and c.806G>A/R269H) cause CMT2C

cmt2c affected spinal drg genetic sanger quantitative
Manual annotation and analysis of the defensin gene cluster in the C57BL/6J mouse reference genome.

PMID 20003482 · PMC2807441 · BMC genomics · 2009 · 8 claims · 6 setups

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Manual annotation of the mouse Chromosome 8 defensin region identifies 98 gene loci: 54 in the alpha-defensin cluster and 44 in the beta-defensin cluster

c57bl orthologous alpha-defensin defensin manual comparative sequence
Whole genome distribution and ethnic differentiation of copy number variation in Caucasian and Asian populations.

PMID 19956714 · PMC2776354 · PloS one · 2009 · 8 claims · 5 setups

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3,019 CNVs (2,381 autosomal, 638 X chromosome) were identified across 985 Caucasian and 692 Asian individuals using the Affymetrix 500K array

same caucasian cau autosomal snp copy population
Molecular characterization of retinitis pigmentosa in Saudi Arabia.

PMID 19956407 · PMC2786884 · Molecular vision · 2009 · 8 claims · 7 setups

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The causative mutation was identified in 51 of 52 (94%/98%) Saudi RP patients, including seven novel mutations.

blood-derived families pcr-amplified ethnically genome-wide linkage bidirectional
Genetics of autistic disorders: review and clinical implications.

PMID 19941018 · PMC2839494 · European child & adolescent psychiatry · 2010 · 8 claims · 8 setups

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AD are predominantly genetically determined disorders with heritability of around 90%.

families individuals parietal post-mortem genome-wide candidate standard
Application of OMICS technologies in occupational and environmental health research; current status and projections.

PMID 19933307 · PMC2910417 · Occupational and environmental medicine · 2010 · 8 claims · 6 setups

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Five OMICS technologies are well established: genotyping, transcriptomics, epigenomics, proteomics, and metabolomics

population genomic blood genome array-based comparative gene
Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12).

PMID 19929093 · PMC2945731 · The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2009 · 8 claims · 4 setups

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The translocation breakpoints disrupt SLC31A1 (intron 1) on chromosome 9 and a predicted gene containing CCL2 (5'UTR/exons) on chromosome 17

family genomic case-control case fluorescence long-range mutation
The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.

PMID 19926015 · PMC2880864 · Journal of the American College of Cardiology · 2009 · 8 claims · 6 setups

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Comprehensive open-reading-frame RYR2 mutational analysis reveals possible CPVT1 mutations located outside the three canonical hot-spot domains

genomic hair-root reference patients pcr screening multi-tissue
Exome sequencing identifies the cause of a mendelian disorder.

PMID 19915526 · PMC2847889 · Nature genetics · 2010 · 8 claims · 7 setups

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Exome sequencing of a small number of unrelated affected individuals, combined with filtering against public SNP databases and HapMap exomes, is sufficient to identify the causal gene for a monogenic disorder of unknown etiology.

patients chromosomes dhodh utero exome directed sanger
Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.

PMID 19912631 · PMC2780402 · BMC medical genetics · 2009 · 8 claims · 6 setups

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Mutations in RAG1/2 and DCLRE1C account for around 50% and 25%, respectively, of the study cohort, a proportion much higher than previously reported series

parental genomic anonymized peripheral microsatellite direct mutation
PLANdbAffy: probe-level annotation database for Affymetrix expression microarrays.

PMID 19906711 · PMC2808952 · Nucleic acids research · 2010 · 6 claims · 4 setups

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PLANdbAffy is a database of Affymetrix probe alignments to the human genome for five widely used arrays (HG-U133A, HG-U133B, HG-U133 Plus 2.0, Human Exon 1.0, Human Gene 1.0)

hg-u133a ucsc dbsnp probe blat est snp
Timing constraints of in vivo gag mutations during primary HIV-1 subtype C infection.

PMID 19890401 · PMC2768328 · PloS one · 2009 · 7 claims · 7 setups

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Reverse mutations to the wild type (HIV-1C consensus) in Gag appear significantly earlier than escape mutations from the wild type during primary infection

hiv-1 same sequenced gag single-genome mhc hypermutation
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.

PMID 19881469 · PMC4511341 · Journal of human genetics · 2009 · 8 claims · 6 setups

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Screening all 72 exons of USH2A (long isoform) identifies significantly more mutations than screening only the short-isoform exons 1-21

genomic ush2 ush2a sscp audiological ophthalmological
Malaria severity and human nitric oxide synthase type 2 (NOS2) promoter haplotypes.

PMID 19859740 · PMC2939908 · Human genetics · 2010 · 7 claims · 7 setups

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NOS2 promoter haplotypes are not consistently associated with malaria severity or malarial anemia across three independent Tanzanian study populations

tanzanian a549 muheza-tanga sscp pcr restriction
Limited copy number-high resolution melting (LCN-HRM) enables the detection and identification by sequencing of low level mutations in cancer biopsies.

PMID 19811662 · PMC2766370 · Molecular cancer · 2009 · 7 claims · 6 setups

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LCN-HRM enables detection and sequencing-based characterisation of low-level mutations that are undetectable by direct sequencing alone

hct116 ffpe genomic tx84 dideoxynucleotide high lcn-hrm

Experiments

A space-efficient and accurate method for mapping and aligning cDNA sequences onto genomic sequence.

Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis.

mtDNA nt13708A variant increases the risk of multiple sclerosis.

A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series.

Protective effect of paraoxonase 1 gene variant Gln192Arg in age-related macular degeneration.

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.

Manual annotation and analysis of the defensin gene cluster in the C57BL/6J mouse reference genome.

Whole genome distribution and ethnic differentiation of copy number variation in Caucasian and Asian populations.

Molecular characterization of retinitis pigmentosa in Saudi Arabia.

Genetics of autistic disorders: review and clinical implications.

Application of OMICS technologies in occupational and environmental health research; current status and projections.

Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12).

The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.

Exome sequencing identifies the cause of a mendelian disorder.

Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.

PLANdbAffy: probe-level annotation database for Affymetrix expression microarrays.

Timing constraints of in vivo gag mutations during primary HIV-1 subtype C infection.

Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.

Malaria severity and human nitric oxide synthase type 2 (NOS2) promoter haplotypes.

Limited copy number-high resolution melting (LCN-HRM) enables the detection and identification by sequencing of low level mutations in cancer biopsies.