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).

• SNiPer: improved SNP genotype calling for Affymetrix 10K GeneChip microarray data.

  PMID 16262895 · PMC1280925 · BMC genomics · 2005 · 8 claims · 5 setups

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  Poorly performing SNPs (NoCall rate ≥25%) fail primarily due to inadequate training/localization of the MPAM statistical model call zone, not detection filter failure

  genomic genotype genotyped chromosomal snp clustering mendelian

• Constitutional genetic variation at the human aromatase gene (Cyp19) and breast cancer risk.

  PMID 10027313 · PMC2362434 · British journal of cancer · 1999 · 7 claims · 5 setups

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  Allelic distribution of the Cyp19 intron 4 STRP differs significantly between breast cancer cases and controls

  peripheral ceph individuals cases strp genotyping fluorescent

• High performance imputation of structural and single nucleotide variants using low-coverage whole genome sequencing.

  PMID 40155798 · PMC11951665 · Genetics, selection, evolution : GSE · 2025 · 7 claims · 6 setups

  Has reproduction · 85

  SNVs are imputed with high accuracy and recall across all tested WGS depths (1-4x), including in samples external to the reference panel.

  atlantic low-coverage genotyping genome

• GenomeChronicler: The Personal Genome Project UK Genomic Report Generator Pipeline.

  PMID 33193602 · PMC7541957 · Frontiers in genetics · 2020 · 8 claims · 5 setups

  Has reproduction · 80

  GenomeChronicler is, to the authors' knowledge, the first pipeline that can be run offline or in the cloud to generate non-disease-limited personal genomics reports from whole genome or whole exome sequencing data.

  individuals genotypes personal genomes genome ancestry variant

• High-density SNP genotyping to define beta-globin locus haplotypes.

  PMID 18829352 · PMC4251776 · Blood cells, molecules & diseases · 2009 · 8 claims · 5 setups

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  RFLP analysis lacks sufficient site density/coverage to accurately reflect the genomic complexity of the β-locus

  genomic rflp subset rflp high-density haploview

• Comparative analysis of circular RNAs between soybean cytoplasmic male-sterile line NJCMS1A and its maintainer NJCMS1B by high-throughput sequencing.

  PMID 30208848 · PMC6134632 · BMC genomics · 2018 · 8 claims · 7 setups

  Has reproduction · 50

  2867 circRNAs were identified in soybean flower buds via high-throughput sequencing with RNase R enrichment, of which 1009 were differentially expressed between NJCMS1A and NJCMS1B

  flower roots analysis parental high-throughput quantitative pcr

• High-throughput genomic technology in research and clinical management of breast cancer. Evolving landscape of genetic epidemiological studies.

  PMID 16834767 · PMC1557740 · Breast cancer research : BCR · 2006 · 8 claims · 5 setups

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  Candidate polymorphism-based genetic epidemiological studies have yielded little success in identifying low-penetrance breast cancer susceptibility genes, largely due to poor genomic coverage and inadequate statistical power.

  breast large-scale candidate single candidate ultra medium-throughput

• Decision forest analysis of 61 single nucleotide polymorphisms in a case-control study of esophageal cancer; a novel method.

  PMID 16026601 · PMC1637030 · BMC bioinformatics · 2005 · 8 claims · 2 setups

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  DF-SNPs, a novel adaptation of the Decision Forest method, can classify esophageal cancer cases vs. controls based on SNP genotype data with high concordance, sensitivity, and specificity.

  genomic snp high-throughput decision

• Cost-effectively dissecting the genetic architecture of complex wool traits in rabbits by low-coverage sequencing.

  PMID 36401180 · PMC9673297 · Genetics, selection, evolution : GSE · 2022 · 8 claims · 8 setups

  Has reproduction · 50

  BaseVar + STITCH at 1.0X sequencing depth with a sample size >300 achieves the highest genotyping accuracy among tested imputation strategies (genotype concordance >98.8%, genotype accuracy >0.97).

  angora domesticated candidate low-coverage multivariate principal

• Genetic demultiplexing of pooled single-cell RNA-sequencing samples in cancer facilitates effective experimental design.

  PMID 34553212 · PMC8458035 · GigaScience · 2021 · 8 claims · 7 setups

  Has reproduction · 87

  Genetic variation–based demultiplexing tools can be effectively deployed on cancer scRNA-seq tissue using a pooled experimental design, achieving high recall at acceptable precision-recall tradeoffs in both high-CNV (HGSOC) and high-SNV (lung adenocarcinoma) cancers, even with extremely high doublet proportions.

  high-grade lung hgsoc healthy single-cell matched doublet

• Rapid detection of SMARCB1 sequence variation using high resolution melting.

  PMID 20003390 · PMC2801682 · BMC cancer · 2009 · 8 claims · 6 setups

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  HRM screening of SMARCB1 amplicons has a zero false negative rate compared to direct sequencing

  genomic same tumor rhabdoid high direct hrm

• The specificity of the FOXL2 c.402C>G somatic mutation: a survey of solid tumors.

  PMID 19956657 · PMC2777318 · PloS one · 2009 · 6 claims · 4 setups

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  The FOXL2 c.402C>G mutation is not commonly found in a wide variety of other cancers and is likely pathognomonic for A-GCTs and closely related tumors.

  tumor ovarian kgn high sanger taqman

• MicroRNA profiling of BRCA1/2 mutation-carrying and non-mutation-carrying high-grade serous carcinomas of ovary.

  PMID 19798417 · PMC2749450 · PloS one · 2009 · 7 claims · 7 setups

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  High grade serous carcinomas with and without BRCA1/2 abnormalities show very similar miRNA expression profiles, with no clear clustering separation by BRCA1/2 status

  high ovarian mir-29a mirna unsupervised significance

• A pharmacogene database enhanced by the 1000 Genomes Project.

  PMID 19745786 · PMC2935084 · Pharmacogenetics and genomics · 2009 · 7 claims · 4 setups

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  The database provides a convenient portal for immediate utilization of newly released 1000 Genomes Project (KGP) data in pharmacogenetic studies

  ceu hapmap lymphoblastoid genotype-phenotype whole-genome low-coverage

• Assessment of genotyping array performance for genome-wide association studies and imputation in African cattle.

  PMID 36057548 · PMC9441065 · Genetics, selection, evolution : GSE · 2022 · 7 claims · 6 setups

  Has reproduction · 90

  Commercially available bovine arrays are ineffective at capturing variants segregating among African indicine animals, with only 6% of high-LD (r2>0.8) variants captured by the best arrays versus 17% in African taurine and 25% in European taurine.

  global ndama target illumina whole-genome array genotype

• Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

  PMID 16981987 · PMC1592085 · BMC medical genetics · 2006 · 8 claims · 6 setups

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  Mutations were identified in 64 of 84 (76%) TSC probands, comprising 9 TSC1 and 55 TSC2 mutations

  genomic pcr-amplified tsc healthy dhplc direct pcr

• Frequency of common HFE variants in the Saudi population: a high throughput molecular beacon-based study.

  PMID 16672055 · PMC1468397 · BMC medical genetics · 2006 · 6 claims · 5 setups

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  Molecular beacon-based real-time PCR assays for p.C282Y and p.H63D achieve complete genotype concordance with restriction enzyme digestion and direct sequencing

  genomic anonymized dried pcr-restriction direct molecular

• Single nucleotide polymorphisms of the APC gene and colorectal cancer risk: a case-control study in Taiwan.

  PMID 16569251 · PMC1488868 · BMC cancer · 2006 · 7 claims · 4 setups

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  Three novel APC germline mutations were identified in Taiwanese subjects: a frameshift deletion at codon 460 (g.1378delG), and two missense substitutions p.V1125A and p.S1126R

  genomic taiwanese dhplc pcr sanger

• 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

• Direct maximum parsimony phylogeny reconstruction from genotype data.

  PMID 18053244 · PMC2222657 · BMC bioinformatics · 2007 · 6 claims · 4 setups

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  The paper presents the first practical method for computing maximum parsimony phylogenies directly from genotype data, using integer linear programming.

  simulated mitochondrial lipoprotein coalescent maximum sliding-window