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).

• Minisequencing mitochondrial DNA pathogenic mutations.

  PMID 18402672 · PMC2377236 · BMC medical genetics · 2008 · 7 claims · 7 setups

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  A minisequencing multiplex assay can interrogate 25 pathogenic mtDNA mutations across the whole mtDNA genome in a single reaction using 13 amplicons.

  blood-derived same genomic pcr minisequencing automatic multiplex

• A method for detecting epistasis in genome-wide studies using case-control multi-locus association analysis.

  PMID 18667089 · PMC2533022 · BMC genomics · 2008 · 7 claims · 2 setups

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  HFCC is a method/software for genome-wide epistasis detection using case-control multi-locus association analysis, combining a fast computing algorithm with flexibility to test a variety of epistatic models.

  blood-derived simulated genome-wide simulation-based

• The Multi-State Epigenetic Pacemaker enables the identification of combinations of factors that influence DNA methylation.

  PMID 39549198 · PMC11979089 · GeroScience · 2025 · 9 claims · 2 setups

  Has reproduction · 54

  The Multi-State Epigenetic Pacemaker (MSEPM) can accurately model multiple methylation-associated factors (e.g., age, sex, cell-type) simultaneously.

  blood simulated methylation simulation

• Nimbus: a design-driven analyses suite for amplicon-based NGS data.

  PMID 29538618 · PMC6084620 · Bioinformatics (Oxford, England) · 2018 · 7 claims · 4 setups

  Has reproduction · 64

  Nimbus is an end-to-end software suite for amplicon-based NGS data that tracks source amplicons through alignment and variant calling, with tools for trimming, alignment, SNP/InDel calling, QC and visualization.

  blood twin na15510 haloplex snp whole-exome

• The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers.

  PMID 15743497 · PMC1064126 · Breast cancer research : BCR · 2005 · 7 claims · 5 setups

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  The AR CAG repeat polymorphism does not modify breast cancer risk in BRCA1 mutation carriers

  peripheral brca1 same simulated fluorescent cox weighted

• Restriction landmark genomic scanning (RLGS) spot identification by second generation virtual RLGS in multiple genomes with multiple enzyme combinations.

  PMID 18053125 · PMC2235865 · BMC genomics · 2007 · 7 claims · 4 setups

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  A second-generation virtual RLGS (vRLGS) system predicts DNA fragment migration using sequence characteristics plus fragment length, and is applicable to any sequenced genome and enzyme combination

  peripheral genome restriction virtual

• Multiplex amplification enabled by selective circularization of large sets of genomic DNA fragments.

  PMID 15860768 · PMC1087789 · Nucleic acids research · 2005 · 8 claims · 4 setups

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  Selector oligonucleotides can circularize many distinct genomic restriction fragments in one reaction, enabling parallel amplification with a single universal primer pair instead of multiple target-specific primer pairs

  genomic 7776-clone selector-based cdna restriction

• Multilocus analysis of SNP and metabolic data within a given pathway.

  PMID 16412218 · PMC1382210 · BMC genomics · 2006 · 8 claims · 7 setups

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  The combinatorial partitioning method (CPM) with optimal thresholds can identify SNPs associated with quantitative metabolite levels rather than only categorical traits.

  healthy plasma genomic chi-square combinatorial leave-one-out

• Large-scale copy number variants (CNVs): distribution in normal subjects and FISH/real-time qPCR analysis.

  PMID 17565693 · PMC1920519 · BMC genomics · 2007 · 8 claims · 4 setups

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  42 different CNVs were detected in 27 phenotypically normal individuals using 1 Mb resolution BAC array-CGH

  genomic metaphase computational array-cgh fish real-time

• A procedure for the detection of linkage with high density SNP arrays in a large pedigree with colorectal cancer.

  PMID 17222328 · PMC1784097 · BMC cancer · 2007 · 7 claims · 8 setups

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  A workflow combining Alohomora, Mega2, MENDEL, SNPLINK and SimWalk2 enables linkage analysis with high-density SNP arrays in large pedigrees (>35-40 bits) that exceed the capacity of single existing programs

  peripheral pedigree nuclear family snp two-point multipoint

• The (CTG)n polymorphism in the NOTCH4 gene is not associated with schizophrenia in Japanese individuals.

  PMID 11407996 · PMC32311 · BMC psychiatry · 2001 · 6 claims · 4 setups

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  No significant differences in genotype or allele frequencies of the NOTCH4 (CTG)n repeat were found between schizophrenia patients and controls

  genomic pcr genotype pcr-based direct pcr

• pwrEWAS: a user-friendly tool for comprehensive power estimation for epigenome wide association studies (EWAS).

  PMID 31035919 · PMC6489300 · BMC bioinformatics · 2019 · 7 claims · 8 setups

  Has reproduction · 88

  pwrEWAS is a user-friendly tool (R package and Shiny web interface) for comprehensive power estimation in two-group EWAS using Illumina HumanMethylation BeadChip technology.

  saliva blood cord-blood pbmc illumina simulation

• 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

• Meta-analysis of inter-species liver co-expression networks elucidates traits associated with common human diseases.

  PMID 20019805 · PMC2787626 · PLoS computational biology · 2009 · 8 claims · 8 setups

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  A novel semi-parametric meta-analysis method (based on a gene-centric Glass's d effect size) outperforms existing parametric and non-parametric meta-analysis methods at identifying functionally coherent gene pairs across species.

  liver simulated conserved nearly gene simulation kolmogorov-smirnov

• Including microbiome information in a multi-trait genomic evaluation: a case study on longitudinal growth performance in beef cattle.

  PMID 38491422 · PMC10943865 · Genetics, selection, evolution : GSE · 2024 · 8 claims · 5 setups

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  The host genome's influence on the functional rumen microbiome contributes to temporal variation in average daily gain (ADG1-ADG4) across finishing months in beef cattle.

  rumen blood beef metagenome snp longitudinal

• Digital sorting of complex tissues for cell type-specific gene expression profiles.

  PMID 23497278 · PMC3626856 · BMC bioinformatics · 2013 · 8 claims · 8 setups

  Has reproduction · 85

  The Digital Sorting Algorithm (DSA) deconvolves mixed tissue expression into cell type-specific profiles using only marker genes, without requiring prior knowledge of cell type frequencies or in vitro pure-cell profiles.

  liver im-9 immune deconvolved microarray simulation roc

• Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy.

  PMID 18382660 · PMC2270336 · PloS one · 2008 · 8 claims · 6 setups

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  16 of 30 patients with suspected MODY (53%) carry GCK mutations, confirming GCK MODY diagnosis

  genomic gck fasting pediatric direct molecular biochemical

• Net positive charge of HIV-1 CRF01_AE V3 sequence regulates viral sensitivity to humoral immunity.

  PMID 18787705 · PMC2527523 · PloS one · 2008 · 8 claims · 5 setups

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  Reduction in V3's net positive charge makes V3 less variable due to limited positive selection

  hiv-1 recombinant plasma gp120 sequence single-round v3-peptide-based

• Microsatellites and SNPs linkage analysis in a Sardinian genetic isolate confirms several essential hypertension loci previously identified in different populations.

  PMID 19715579 · PMC2741446 · BMC medical genetics · 2009 · 8 claims · 6 setups

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  Three loci (2q24, 11q23.1-25, 13q14.11-21.33) were identified by both the microsatellite and SNP genome-wide scans

  talana volunteers same ogliastra genome-wide clinical genotype