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).

• Assaying chromosomal inversions by single-molecule haplotyping.

  PMID 16721377 · PMC2690135 · Nature methods · 2006 · 8 claims · 4 setups

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  Haplotype Fusion PCR (HF-PCR) juxtaposes sequences flanking an inversion breakpoint on single DNA molecules via emulsion PCR, generating orientation-specific fusion products diagnostic of inversion genotype

  genomic yac haplotype pulsed template

• 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

• Pooled DNA genotyping on Affymetrix SNP genotyping arrays.

  PMID 16480507 · PMC1382214 · BMC genomics · 2006 · 7 claims · 4 setups

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  Pooled genotyping on Affymetrix 10K arrays estimates allele frequency differences between pools with accuracy comparable to lower-throughput pooling platforms.

  pools individual same parental pooled individual test-retest

• Association of polymorphisms in cyclooxygenase (COX)-2 with coronary and carotid calcium in the Diabetes Heart Study.

  PMID 18768181 · PMC2699582 · Atherosclerosis · 2009 · 8 claims · 6 setups

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  COX-2 promoter SNP rs689466 is associated with lower coronary calcified plaque (CorCP)

  whole-blood-derived subjects dhs unrelated snp coronary carotid

• The brain-derived neurotrophic factor rs6265 (Val66Met) polymorphism and depression in Mexican-Americans.

  PMID 17632285 · PMC2686836 · Neuroreport · 2007 · 7 claims · 4 setups

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  BDNF SNP rs6265 (Val66Met) is significantly associated with diagnosis of major depression in Mexican-Americans

  genomic same participants genotyped snp hardy-weinberg clinical

• Single nucleotide polymorphism discovery and functional assessment of variation in the UDP-glucuronosyltransferase 2B7 gene.

  PMID 18622261 · PMC2680356 · Pharmacogenetics and genomics · 2008 · 7 claims · 7 setups

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  UGT2B7 haplotype 4 is associated with increased enzyme activity (M3G and M6G formation)

  liver caucasian ugt2b7 gene snp enzymatic

• Single-molecule sequencing of an individual human genome.

  PMID 19668243 · PMC4117198 · Nature biotechnology · 2009 · 8 claims · 7 setups

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  Single-molecule sequencing without cloning, amplification or ligation can sequence an individual human genome on one instrument by a single operator in four runs

  genome staphylococcus single-molecule snp sanger

• PDA: Pooled DNA analyzer.

  PMID 16643673 · PMC1539032 · BMC bioinformatics · 2006 · 8 claims · 4 setups

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  No software existed prior to PDA for complete pooled-DNA analysis including data standardization, allele frequency estimation, and single/multipoint association tests

  heterozygous pools ordered peak pooled single-point

• The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures.

  PMID 15799783 · PMC1079842 · BMC medical genetics · 2005 · 7 claims · 4 setups

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  The GABBR1 G1465A polymorphism is not associated with TLE preceded by febrile seizures, failing to replicate the prior positive association

  peripheral clinical pcr-rflp single sequencing

• Integrating genomic based information into clinical warfarin (Coumadin) management: an illustrative case report.

  PMID 18763667 · PMC3696193 · Connecticut medicine · 2008 · 8 claims · 6 setups

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  Combined CYP2C9 and VKORC1 genotype can explain up to 45% of warfarin dose variability

  genomic edta plasma cardiac genotyping extraction inr

• Detection of chromosomal structural alterations in single cells by SNP arrays: a systematic survey of amplification bias and optimized workflow.

  PMID 18074030 · PMC2111048 · PloS one · 2007 · 8 claims · 7 setups

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  MDA-based single-cell whole-genome amplification (S-WGA) products show large variability in amplification bias, including allele dropout and preferential amplification.

  lymphoblastoid lcl cmk11-5 gel taqman oligonucleotide

• Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy.

  PMID 19112530 · PMC2610289 · Molecular vision · 2008 · 8 claims · 5 setups

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  Two novel heterozygous OPA1 mutations were identified: a splice-site mutation c.985-2A>G in family F1 and a nonsense mutation c.2197C>T (p.R733X) in family F2

  genomic available leukocytes affected linkage pcr single

• SIGMA2: a system for the integrative genomic multi-dimensional analysis of cancer genomes, epigenomes, and transcriptomes.

  PMID 18840289 · PMC2571113 · BMC bioinformatics · 2008 · 8 claims · 6 setups

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  SIGMA2 is a Java-based software system that integrates and visualizes genomic, epigenomic, and transcriptomic cancer data.

  single hcc2218 nsclc array gene multi-omics

• HTSQualC is a flexible and one-step quality control software for high-throughput sequencing data analysis.

  PMID 34548573 · PMC8455540 · Scientific reports · 2021 · 8 claims · 5 setups

  Has reproduction · 89

  HTSQualC is a standalone, one-step QC software that performs filtering and trimming of raw HTS data in a single run

  cotton sugarcane tomato illumina single-end paired-end runtime

• Epithelial ovarian cancer: influence of polymorphism at the glutathione S-transferase GSTM1 and GSTT1 loci on p53 expression.

  PMID 8956789 · PMC2077203 · British journal of cancer · 1996 · 8 claims · 4 setups

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  GSTM1, GSTT1 and CYP2D6 genotype/allele frequencies did not differ significantly between 84 ovarian cancer cases and 325 controls, showing no association with disease susceptibility.

  leucocyte paraffin-embedded tumour pcr-amplified pcr-based immunohistochemistry single-strand

• Evaluation of multiple displacement amplification in a 5 cM STR genome-wide scan.

  PMID 16055919 · PMC1182175 · Nucleic acids research · 2005 · 7 claims · 5 setups

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  MDA genotyping call rates and accuracy are only marginally lower than for genomic DNA

  genomic same monozygotic subset genome-wide genome

• Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms.

  PMID 18784189 · PMC2577347 · Nucleic acids research · 2008 · 8 claims · 6 setups

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  Genomic waves are present in both Illumina and Affymetrix SNP genotyping arrays, confirming they are not platform-specific

  representative illumina six snp serial concentration

• Genome sequence, comparative analysis, and population genetics of the domestic horse.

  PMID 19892987 · PMC3785132 · Science (New York, N.Y.) · 2009 · 8 claims · 7 setups

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  Produced a high-quality draft genome assembly of the domestic horse (EquCab2.0)

  single horse eight twelve genome fish chip-on-chip

• A homozygous CARD9 mutation in a family with susceptibility to fungal infections.

  PMID 19864672 · PMC2793117 · The New England journal of medicine · 2009 · 7 claims · 7 setups

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  A homozygous CARD9 point mutation (Q295X, premature termination codon) is associated with autosomal recessive susceptibility to chronic mucocutaneous candidiasis.

  family patients peripheral-blood peripheral snp microsatellite sanger

• 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