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: family ✕ Assay: sensitivity ✕ Clear

Clustering by neurocognition for fine mapping of the schizophrenia susceptibility loci on chromosome 6p.

PMID 19694819 · PMC4286260 · Genes, brain, and behavior · 2009 · 6 claims · 6 setups

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A family-based clustering strategy using neurocognitive test scores (CPT, WCST) can identify more homogeneous subgroups of schizophrenia families for genetic association analysis

multiplex affected subjects cluster-specific family-based continuous wisconsin
TPRpred: a tool for prediction of TPR-, PPR- and SEL1-like repeats from protein sequences.

PMID 17199898 · PMC1774580 · BMC bioinformatics · 2007 · 7 claims · 8 setups

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TPRpred detects divergent/remote-homolog TPR repeat units that existing resources (Pfam, SMART, REP) fail to detect

scop-derived malt nr-70 scop profile-based dali remote
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
Future possibilities in the prevention of breast cancer: intervention strategies in BRCA1 and BRCA2 mutation carriers.

PMID 11250722 · PMC138789 · Breast cancer research : BCR · 2000 · 8 claims · 8 setups

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BRCA1 and BRCA2 mutations confer an 80-85% lifetime risk (by age 80) of female breast cancer

normal affected women brca1 clonogenic germline mammographic
Polymorphism at the C-reactive protein locus influences gene expression and predisposes to systemic lupus erythematosus.

PMID 14645206 · PMC3707088 · Human molecular genetics · 2004 · 8 claims · 5 setups

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The minor (rare) allele of CRP SNP 'CRP 4' is associated/linked with development of SLE in family-based transmission studies.

crp simplex same serum direct family-based linkage
Needles in the haystack: identifying individuals present in pooled genomic data.

PMID 19798441 · PMC2747273 · PLoS genetics · 2009 · 8 claims · 7 setups

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The distribution of T for null samples (individuals not in F or G) deviates strongly from the assumed standard normal, in both location and width.

cgems hapmap genetic-distance within-population snp-count
Local combinational variables: an approach used in DNA-binding helix-turn-helix motif prediction with sequence information.

PMID 19651875 · PMC2761287 · Nucleic acids research · 2009 · 8 claims · 7 setups

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The LCV approach predicts HTH motifs with 93.29% accuracy, 93.93% sensitivity and 92.66% specificity using only primary sequence information

quintessentialset-88 hth same newly lcs svm traditional
A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy.

PMID 19649163 · PMC2718742 · Molecular vision · 2009 · 7 claims · 7 setups

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A novel heterozygous UBIAD1 mutation, G98S, was identified in two affected members (proband and her father) of a Chinese SCCD family.

genomic cornea corneas blood direct pcr laser
Gene-expression patterns in peripheral blood classify familial breast cancer susceptibility.

PMID 26538066 · PMC4634735 · BMC medical genomics · 2015 · 8 claims · 7 setups

Has reproduction · 83

A multigene expression biomarker from PBMCs accurately classifies familial breast cancer (FBC) status

pbmcs utah blood normal microarray svm-rfe svm
Systematic and computational identification of Androctonus crassicauda long non-coding RNAs.

PMID 33633149 · PMC7907363 · Scientific reports · 2021 · 7 claims · 7 setups

Has reproduction · 71

A custom ECF pipeline identified 13,401 lncRNAs in the A. crassicauda transcriptome (12,642 novel, 759 known).

androctonus crassicauda paired-end coding homology
Advances in breast cancer: pathways to personalized medicine.

PMID 19088015 · PMC4535810 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2008 · 8 claims · 8 setups

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Germline BRCA1/BRCA2 mutations are strong predictors of breast and ovarian cancer, conferring a 40-80% lifetime risk of breast cancer

population-based women breast high-risk germline genome-wide microarray
Metabolomic profiling in LRRK2-related Parkinson's disease.

PMID 19847307 · PMC2761616 · PloS one · 2009 · 7 claims · 3 setups

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Metabolomic profiles of both idiopathic PD and LRRK2 PD are clearly separated from controls

plasma preprocessed untargeted targeted pls-da
A novel mutation and phenotypes in phosphodiesterase 6 deficiency.

PMID 18723146 · PMC2593460 · American journal of ophthalmology · 2008 · 8 claims · 8 setups

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A high-throughput arRP genotyping microarray (APEX technology) combined with sequencing can efficiently identify disease-associated alleles across 17 arRP genes in RP patients

blood-extracted family 8-member pde6-deficient arrp direct pedigree
PALB2 variants in hereditary and unselected Finnish prostate cancer cases.

PMID 20003494 · PMC2806404 · Journal of negative results in biomedicine · 2009 · 8 claims · 6 setups

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None of the detected PALB2 variants, including 1592delT, show significant association with PRCA at the population level in Finland

blood finnish combined formalin-fixed direct additional statistical
Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa.

PMID 18509552 · PMC2391085 · Molecular vision · 2008 · 7 claims · 7 setups

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Point mutations and small insertions/deletions in TOPORS cause approximately 1% of adRP

genomic unrelated additional patients fluorescent multiplex sequencing
Aryl hydrocarbon receptor nuclear translocator (ARNT) gene as a positional and functional candidate for type 2 diabetes and prediabetic intermediate traits: Mutation detection, case-control studies, and gene expression analysis.

PMID 18366646 · PMC2323364 · BMC medical genetics · 2008 · 7 claims · 8 setups

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Common ARNT variants are not associated with type 2 diabetes in European American or African American case-control cohorts

european african individuals nondiabetic snp variant direct

Experiments

Clustering by neurocognition for fine mapping of the schizophrenia susceptibility loci on chromosome 6p.

TPRpred: a tool for prediction of TPR-, PPR- and SEL1-like repeats from protein sequences.

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

Future possibilities in the prevention of breast cancer: intervention strategies in BRCA1 and BRCA2 mutation carriers.

Polymorphism at the C-reactive protein locus influences gene expression and predisposes to systemic lupus erythematosus.

Needles in the haystack: identifying individuals present in pooled genomic data.

Local combinational variables: an approach used in DNA-binding helix-turn-helix motif prediction with sequence information.

A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy.

Gene-expression patterns in peripheral blood classify familial breast cancer susceptibility.

Systematic and computational identification of Androctonus crassicauda long non-coding RNAs.

Advances in breast cancer: pathways to personalized medicine.

Metabolomic profiling in LRRK2-related Parkinson's disease.

A novel mutation and phenotypes in phosphodiesterase 6 deficiency.

PALB2 variants in hereditary and unselected Finnish prostate cancer cases.

Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa.

Aryl hydrocarbon receptor nuclear translocator (ARNT) gene as a positional and functional candidate for type 2 diabetes and prediabetic intermediate traits: Mutation detection, case-control studies, and gene expression analysis.