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 14

System / cell line: unrelated ✕ Assay: statistical ✕ Clear

A simple and efficient algorithm for genome-wide homozygosity analysis in disease.

PMID 19756043 · PMC2758715 · Molecular systems biology · 2009 · 8 claims · 4 setups

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A genome-wide AH analysis (GAHA) algorithm can identify disease-associated loci by comparing frequencies of homozygous segments between cases and controls using a z-statistic proportion test

unrelated simulated selected genes genome-wide statistical logistic
Is replication the gold standard for validating genome-wide association findings?

PMID 19112512 · PMC2605260 · PloS one · 2008 · 8 claims · 4 setups

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The probability of replicating a specific GWA-identified variant decreases as the number of independent GWA/replication studies increases, when individual study power is less than 100%.

simulated diallelic hypothetical four statistical marker bayesian
Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage.

PMID 32367296 · PMC7419486 · Journal of neurology · 2020 · 8 claims · 6 setups

Has reproduction · 78

Sequence variants in PCNT, RNF213 and THSD1 support a role as susceptibility factors for cerebrovascular disease (UIA/aSAH)

unrelated affected additional 75-patient exome sanger gene
An efficient method for multi-locus molecular haplotyping.

PMID 17158153 · PMC1802573 · Nucleic acids research · 2007 · 7 claims · 6 setups

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A novel molecular haplotyping method using limiting dilution, aliquot pre-screening, and tiling reconstruction can resolve haplotypes spanning many loci over long distances from a single individual's DNA.

single agarose-embedded genotyping multiplexed monoplex primer-extension
Single nucleotide polymorphisms in bone turnover-related genes in Koreans: ethnic differences in linkage disequilibrium and haplotype.

PMID 18036257 · PMC2222243 · BMC medical genetics · 2007 · 8 claims · 5 setups

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Resequencing 81 candidate osteoporosis genes in 24 Koreans identified 942 variants (888 SNPs, 43 indels, 11 microsatellites)

genomic sequenced korean common sanger sequence population
Size matters: just how big is BIG?: Quantifying realistic sample size requirements for human genome epidemiology.

PMID 18676414 · PMC2639365 · International journal of epidemiology · 2009 · 7 claims · 2 setups

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Conventional power calculations for case-control studies disregard analytic complexity (e.g. clinical assessment errors, unmeasured aetiological determinants) and can seriously underestimate true sample size requirements

simulated simulation-based simulated
SW-ARRAY: a dynamic programming solution for the identification of copy-number changes in genomic DNA using array comparative genome hybridization data.

PMID 15961730 · PMC1151590 · Nucleic acids research · 2005 · 7 claims · 5 setups

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SW-ARRAY, an adaptation of the Smith-Waterman dynamic programming algorithm, provides a sensitive and robust method for identifying copy-number changes in array CGH data

chromosome 16p array probe-by-probe sw-array
HLA-A gene polymorphism defined by high-resolution sequence-based typing in 161 Northern Chinese Han people.

PMID 15629059 · PMC5172246 · Genomics, proteomics & bioinformatics · 2003 · 7 claims · 5 setups

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HLA-A gene shows high polymorphism in the Northern Chinese Han population, with 74 gene types and 36 alleles detected in 161 individuals

genomic ihwg peripheral allele sequence-based pcr sbt
Relative impact of nucleotide and copy number variation on gene expression phenotypes.

PMID 17289997 · PMC2665772 · Science (New York, N.Y.) · 2007 · 8 claims · 5 setups

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SNPs and CNVs capture largely non-overlapping signals of genetic variation affecting gene expression

lymphoblastoid same computational subset gene snp array
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
Molecular epidemiology of DFNB1 deafness in France.

PMID 15070423 · PMC385234 · BMC medical genetics · 2004 · 8 claims · 7 setups

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35delG remains the most common pathogenic GJB2 mutation in the studied French (Languedoc Roussillon) population despite being less frequent than in other Mediterranean populations

gjb2 dried genomic deaf dhplc pcr-mediated pcr-dhplc
Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish.

PMID 16515697 · PMC1448207 · BMC medical genetics · 2006 · 8 claims · 7 setups

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CMS compares IBS allele/genotype sharing between distantly related (beyond grandparental) affected and unaffected individuals from founder populations to detect disease loci while reducing confounding from population stratification and genetic heterogeneity.

amish unrelated same overall microsatellite combinatorial permutation
Functional copy-number alterations in cancer.

PMID 18784837 · PMC2527508 · PloS one · 2008 · 8 claims · 3 setups

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RAE is a comprehensive computational framework that robustly maps chromosomal alterations in tumor samples and statistically assesses their functional importance in cancer.

pleomorphic hapmap large snp computational
BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.

PMID 18234728 · PMC2564862 · Journal of medical genetics · 2008 · 8 claims · 7 setups

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BHD germline mutation detection rate was 88% (51/58 families) using direct DNA sequencing

peripheral blood-derived folliculin chest direct subcloning sequence

Experiments

A simple and efficient algorithm for genome-wide homozygosity analysis in disease.

Is replication the gold standard for validating genome-wide association findings?

Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage.

An efficient method for multi-locus molecular haplotyping.

Single nucleotide polymorphisms in bone turnover-related genes in Koreans: ethnic differences in linkage disequilibrium and haplotype.

Size matters: just how big is BIG?: Quantifying realistic sample size requirements for human genome epidemiology.

SW-ARRAY: a dynamic programming solution for the identification of copy-number changes in genomic DNA using array comparative genome hybridization data.

HLA-A gene polymorphism defined by high-resolution sequence-based typing in 161 Northern Chinese Han people.

Relative impact of nucleotide and copy number variation on gene expression phenotypes.

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.

Molecular epidemiology of DFNB1 deafness in France.

Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish.

Functional copy-number alterations in cancer.

BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.