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).
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High-resolution, high-throughput HLA genotyping by next-generation sequencing.
PMID 19845894 · PMC4205125 · Tissue antigens · 2009 · 7 claims · 5 setups
Clonal 454 sequencing reads (>250 nt) are long enough to span HLA exons and set phase of linked polymorphisms, resolving ambiguities inherent to Sanger-based heterozygote sequencing.
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Has reproduction · 40
On the holobiont 'predictome' of immunocompetence in pigs.
PMID 37127575 · PMC10150480 · Genetics, selection, evolution : GSE · 2023 · 8 claims · 8 setups
Holobiont (combined genotype + microbiome) models performed better than partial models (genotype-only or microbiome-only) overall
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Non-imprinted allele-specific DNA methylation on human autosomes.
PMID 19958531 · PMC2812945 · Genome biology · 2009 · 8 claims · 7 setups
SNPs within CpG islands are associated with allele-specific DNA methylation differences between alleles.
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Has reproduction · 64
Nimbus: a design-driven analyses suite for amplicon-based NGS data.
PMID 29538618 · PMC6084620 · Bioinformatics (Oxford, England) · 2018 · 7 claims · 4 setups
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.
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SNiPer: improved SNP genotype calling for Affymetrix 10K GeneChip microarray data.
PMID 16262895 · PMC1280925 · BMC genomics · 2005 · 8 claims · 5 setups
Poorly performing SNPs (NoCall rate ≥25%) fail primarily due to inadequate training/localization of the MPAM statistical model call zone, not detection filter failure
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Sequence diversity within the HA-1 gene as detected by melting temperature assay without oligonucleotide probes.
PMID 16202172 · PMC1260020 · BMC medical genetics · 2005 · 8 claims · 3 setups
HA-1 allele and genotype frequencies were determined in 131 unrelated Italian subjects (HA-1H=0.43, HA-1R=0.57), consistent with Hardy-Weinberg equilibrium and prior North American Caucasian data.
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Base-pair neutral homozygotes can be discriminated by calibrated high-resolution melting of small amplicons.
PMID 18448472 · PMC2425497 · Nucleic acids research · 2008 · 7 claims · 8 setups
Internal oligonucleotide calibration improves homozygote genotyping accuracy for base-pair neutral small amplicons from 91.7% to 99.7% across five of six targets
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Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P).
PMID 16887033 · PMC1559599 · BMC medical genetics · 2006 · 6 claims · 5 setups
A multiplexed suspension bead array (Luminex) assay was developed to genotype 8 Ashkenazi-prevalent disease alleles including GBA c.1448T>C
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Genotypic analysis of two hypervariable human cytomegalovirus genes.
PMID 18649324 · PMC2658010 · Journal of medical virology · 2008 · 8 claims · 8 setups
UL146 sequences from 184 samples fall into the same 14 genotypes (G1-G14) previously defined, with no new genotypes found.
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Has reproduction · 85
Colocalization and potential interactions of Endozoicomonas and chlamydiae in microbial aggregates of the coral Pocillopora acuta.
PMID 37196086 · PMC11809670 · Science advances · 2023 · 8 claims · 8 setups
CAMAs are located in the epidermis of the tentacle tips of P. acuta polyps
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Is a genetic defect in Fkbp6 a common cause of azoospermia in humans?
PMID 16983454 · PMC6275806 · Cellular & molecular biology letters · 2006 · 7 claims · 7 setups
Human FKBP6 expression is restricted to the testis among 15 adult tissues examined
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Concurrent genotyping of Helicobacter pylori virulence genes and human cytokine SNP sites using whole genome amplified DNA derived from minute amounts of gastric biopsy specimen DNA.
PMID 18842150 · PMC2577186 · BMC microbiology · 2008 · 7 claims · 8 setups
MDA-amplified DNA from minute gastric biopsy specimens enables concurrent PCR-based genotyping of bacterial (H. pylori) and human host genes from a single DNA source
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Has reproduction · 66
Prime editing in mice reveals the essentiality of a single base in driving tissue-specific gene expression.
PMID 33722289 · PMC7962346 · Genome biology · 2021 · 6 claims · 7 setups
A PE2-mediated single-base (C>G) substitution in the Tspan2 CArG box causes cell-specific loss of Tspan2 mRNA in aorta and bladder but not heart or brain, mirroring HDR-mediated 3-bp substitution.
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Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy.
PMID 15084222 · PMC419352 · BMC medical genetics · 2004 · 6 claims · 5 setups
DHPLC gene scanning of the CFTR gene increases the mutation detection rate compared to standard commercial mutation panel screening alone
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Multiplex SNaPshot for detection of BRCA1/2 common mutations in Spanish and Spanish related breast/ovarian cancer families.
PMID 17603881 · PMC1924843 · BMC medical genetics · 2007 · 7 claims · 4 setups
Ten recurrent/founder mutations (5 in BRCA1, 5 in BRCA2, including the newly observed BRCA2 c.5374-5377delTATG) account for approximately 50% of BRCA1/2 mutations identified in Spanish families
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Comprehensive resequence analysis of a 136 kb region of human chromosome 8q24 associated with prostate and colon cancers.
PMID 18704501 · PMC2525844 · Human genetics · 2008 · 6 claims · 5 setups
Next-generation (Roche/454) resequencing of 136 kb at 8q24 in 39 prostate cancer cases and 40 controls generated a comprehensive catalog of common SNPs (MAF>1%), including 442 novel SNPs
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Minisequencing mitochondrial DNA pathogenic mutations.
PMID 18402672 · PMC2377236 · BMC medical genetics · 2008 · 7 claims · 7 setups
A minisequencing multiplex assay can interrogate 25 pathogenic mtDNA mutations across the whole mtDNA genome in a single reaction using 13 amplicons.
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Assessing the utility of whole-genome amplified serum DNA for array-based high throughput genotyping.
PMID 20021669 · PMC2803178 · BMC genetics · 2009 · 8 claims · 8 setups
WGA DNA from archived serum samples produced low genotyping call rates and is unsuitable for high-resolution genotyping on SNP 6.0 arrays
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Rapid detection of SMARCB1 sequence variation using high resolution melting.
PMID 20003390 · PMC2801682 · BMC cancer · 2009 · 8 claims · 6 setups
HRM screening of SMARCB1 amplicons has a zero false negative rate compared to direct sequencing
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Comprehensive resequence analysis of a 97 kb region of chromosome 10q11.2 containing the MSMB gene associated with prostate cancer.
PMID 19644707 · PMC2778717 · Human genetics · 2009 · 7 claims · 5 setups
Resequencing of the 97-kb 10q11.2 region identified 241 novel polymorphisms not previously reported in dbSNP