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 268

System / cell line: testing ✕ Clear

Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.

PMID 16405730 · PMC1343542 · BMC medical genetics · 2006 · 8 claims · 4 setups

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Germline mutations of SDHB and SDHC play a minor role in sporadic head and neck paraganglioma

peripheral genomic ebv-transformed conformation pira-pcr rt-pcr
Direct inference of SNP heterozygosity rates and resolution of LOH detection.

PMID 18052545 · PMC2098867 · PLoS computational biology · 2007 · 6 claims · 7 setups

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A large proportion of SNPs in dbSNP have high-variance HET rate estimates, limiting their reliability for LOH study design.

dbsnp theoretical simulated hapmap snp probability sequential
Molecular correlates of host specialization in Staphylococcus aureus.

PMID 17971880 · PMC2040198 · PloS one · 2007 · 8 claims · 6 setups

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Genome sequencing of ET3-1 revealed genomic elements not previously identified in S. aureus, including homologs of virulence factors from other Gram-positive pathogens

aureus sequenced et3-1 bovine whole-genome comparative substitution
High-resolution aCGH and expression profiling identifies a novel genomic subtype of ER negative breast cancer.

PMID 17925008 · PMC2246289 · Genome biology · 2007 · 7 claims · 8 setups

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A novel subtype of high-grade ER-negative breast cancer exists, characterized by a low genomic instability index (GII)

breast computational array-cgh gene bac
High incidence of human bocavirus infection in children in Spain.

PMID 17904416 · PMC7108365 · Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology · 2007 · 8 claims · 6 setups

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HBoV is a significant contributor to acute lower respiratory tract infection in young children in Spain

nasopharyngeal cloned hbov-positive urine nested multiplex sanger
Single nucleotide polymorphism-based genome-wide linkage analysis in Japanese atopic dermatitis families.

PMID 17900373 · PMC2082241 · BMC dermatology · 2007 · 8 claims · 4 setups

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This is the first SNP-based genome-wide linkage study of atopic dermatitis performed in an Asian population.

japanese same genome-wide snp-based family-based targeted
MiPred: classification of real and pseudo microRNA precursors using random forest prediction model with combined features.

PMID 17553836 · PMC1933124 · Nucleic acids research · 2007 · 8 claims · 8 setups

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A hybrid feature combining local contiguous triplet structure-sequence composition, MFE of the secondary structure, and P-value of a randomization test improves classification of real vs pseudo pre-miRNAs

real combined pre-mirna training random independent repeated
The NRG1 exon 11 missense variant is not associated with autism in the Central Valley of Costa Rica.

PMID 17519028 · PMC1888683 · BMC psychiatry · 2007 · 6 claims · 4 setups

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The NRG1 exon 11 missense variant (G>T) is not associated with autism in the CVCR.

blood genomic subjects trios taqman microsatellite clinical
Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans.

PMID 17218254 · PMC1885944 · Cell · 2007 · 8 claims · 8 setups

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A semidominant ENU-induced S140G mutation in α-1 tubulin (Tuba1) causes hyperactivity and impaired neuronal migration in Jna/+ mice

enu-mutagenized jna cell-free hippocampus locomotor qtl gtp-binding
In silico whole-genome screening for cancer-related single-nucleotide polymorphisms located in human mRNA untranslated regions.

PMID 17201911 · PMC1774567 · BMC genomics · 2007 · 8 claims · 5 setups

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A computational EST-based pipeline can identify UTR-SNPs that are statistically over-represented in cancerous versus normal tissue libraries

est acute 100-nt whole-genome est-based pcr-based secondary
A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.

PMID 19093007 · PMC2603185 · Molecular vision · 2008 · 7 claims · 5 setups

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A novel mutation (1666 A>G, exon 15, S556R) in BBS7 causes BBS in this Chinese family

at-risk eyes blood bbs7 clinical ophthalmologic genetic
Family history of breast cancer and all-cause mortality after breast cancer diagnosis in the Breast Cancer Family Registry.

PMID 19034644 · PMC2728159 · Breast cancer research and treatment · 2009 · 7 claims · 5 setups

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Family history of breast cancer is not associated with all-cause mortality after breast cancer diagnosis in women without a known germline BRCA1/BRCA2 mutation.

women same breast structured cox germline
Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.

PMID 19023448 · PMC2584772 · Molecular vision · 2008 · 8 claims · 7 setups

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Mutations in USH2A are responsible for most cases of USH2

genomic family probands ush2a direct restriction single
Adaptive optics scanning laser ophthalmoscopy images in a family with the mitochondrial DNA T8993C mutation.

PMID 18997096 · PMC4836613 · Investigative ophthalmology & visual science · 2009 · 7 claims · 8 setups

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High T8993C mutant load (>77%) is associated with severe neurologic and/or retinal abnormalities, while low mutant load (42-54%) causes no detectable abnormalities.

retina blood visual adaptive real-time genetic
Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.

PMID 18978956 · PMC2576482 · Molecular vision · 2008 · 7 claims · 6 setups

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Mutations in GPR143 were identified in each of six Chinese OA1 families, comprising five novel mutations and one previously known mutation (c.353G>A).

genomic oa1 one gpr143 pcr heteroduplex junction-fragment
Association of GSK3B with Alzheimer disease and frontotemporal dementia.

PMID 18852354 · PMC2841136 · Archives of neurology · 2008 · 8 claims · 5 setups

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The GSK3B intronic polymorphism IVS2-68G>A is associated with increased risk of AD and FTD in a case-control cohort

genomic case-control family-based sib-pair pcr allele-specific fluorescence-polarization
The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations.

PMID 18852351 · PMC2629407 · Archives of neurology · 2008 · 8 claims · 8 setups

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GBA mutations are associated with a spectrum of parkinsonian phenotypes ranging from Parkinson disease to Lewy body dementia

patients sequencing southern targeted
Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.

PMID 18813951 · PMC4428656 · European journal of pediatrics · 2009 · 7 claims · 6 setups

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SLC26A4 mutations are the most prevalent cause of syndromic hereditary hearing loss (Pendred syndrome) in Iran

affected short pcr perchlorate
Genomic variation in myeloma: design, content, and initial application of the Bank On A Cure SNP Panel to detect associations with progression-free survival.

PMID 18778477 · PMC2553089 · BMC medicine · 2008 · 7 claims · 7 setups

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A custom BOAC SNP panel of 3404 SNPs in 983 genes was developed using the Affymetrix GeneChip Targeted Genotyping Platform, focused on non-synonymous coding SNPs and regulatory-region SNPs in candidate genes.

coriell myeloma duplicate snp targeted genotyping machine
Genomic and epigenetic instability in colorectal cancer pathogenesis.

PMID 18773902 · PMC2866182 · Gastroenterology · 2008 · 8 claims · 7 setups

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Genomic instability (CIN or MSI) is a key early molecular step in colorectal tumorigenesis that may initiate rather than merely accompany the adenoma-carcinoma sequence

colon embryonic colorectal inter immunohistochemistry karyotype

Experiments

Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.

Direct inference of SNP heterozygosity rates and resolution of LOH detection.

Molecular correlates of host specialization in Staphylococcus aureus.

High-resolution aCGH and expression profiling identifies a novel genomic subtype of ER negative breast cancer.

High incidence of human bocavirus infection in children in Spain.

Single nucleotide polymorphism-based genome-wide linkage analysis in Japanese atopic dermatitis families.

MiPred: classification of real and pseudo microRNA precursors using random forest prediction model with combined features.

The NRG1 exon 11 missense variant is not associated with autism in the Central Valley of Costa Rica.

Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans.

In silico whole-genome screening for cancer-related single-nucleotide polymorphisms located in human mRNA untranslated regions.

A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.

Family history of breast cancer and all-cause mortality after breast cancer diagnosis in the Breast Cancer Family Registry.

Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.

Adaptive optics scanning laser ophthalmoscopy images in a family with the mitochondrial DNA T8993C mutation.

Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.

Association of GSK3B with Alzheimer disease and frontotemporal dementia.

The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations.

Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.

Genomic variation in myeloma: design, content, and initial application of the Bank On A Cure SNP Panel to detect associations with progression-free survival.

Genomic and epigenetic instability in colorectal cancer pathogenesis.