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).

• Missense polymorphisms in the adenomatous polyposis coli gene and colorectal cancer risk.

  PMID 18612690 · PMC2768068 · Diseases of the colon and rectum · 2008 · 7 claims · 4 setups

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  Germline missense APC alterations (S130G, E1317Q, D1822V, G2502S) identified in a CRC-multiple-polyp cohort do not confer significantly increased CRC risk when tested in a large population-based case-control series

  germline same population-based ofccr manual dhplc nuclease

• Primase-based whole genome amplification.

  PMID 18559358 · PMC2490742 · Nucleic acids research · 2008 · 8 claims · 6 setups

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  A primase-based Whole Genome Amplification (pWGA) method was developed using T7 gp4 primase to synthesize primers on-template, removing the requirement for synthetic primers

  genomic plasmids circular agarose picogreen dye-terminator

• High resolution melting analysis for rapid and sensitive EGFR and KRAS mutation detection in formalin fixed paraffin embedded biopsies.

  PMID 18495026 · PMC2408599 · BMC cancer · 2008 · 8 claims · 4 setups

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  HRM correctly identified all 73 EGFR-mutation-positive FFPE samples previously found by sequencing, giving 100% sensitivity and 90% specificity

  ffpe single high direct hrm

• Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus.

  PMID 18431453 · PMC2324116 · Molecular vision · 2008 · 7 claims · 5 setups

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  Five novel FRMD7 mutations were identified in five of seven Chinese families with X-linked infantile nystagmus.

  genomic affected patients linkage direct snp

• The use of multiple displacement amplification to amplify complex DNA libraries.

  PMID 18285362 · PMC2275127 · Nucleic acids research · 2008 · 7 claims · 8 setups

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  MDA alone cannot select against/remove plasmid ligation multimers, unlike bacterial propagation

  hes3 hes3-derived coli plasmids isolation flcdna gis-pet

• Identification of gene interactions associated with disease from gene expression data using synergy networks.

  PMID 18234101 · PMC2258206 · BMC systems biology · 2008 · 8 claims · 4 setups

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  Synergy of a gene pair with respect to disease, defined as I(G1,G2;C) - [I(G1;C)+I(G2;C)], identifies gene pairs that interact cooperatively with respect to a phenotype rather than independently.

  prostate simulated microarray simulated permutation

• Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNA(Leu(CUN)) gene.

  PMID 20022607 · PMC3891822 · Journal of the neurological sciences · 2010 · 8 claims · 7 setups

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  The heteroplasmic m.12276G>A mtDNA tRNA Leu(CUN) mutation causes a childhood-onset, slowly progressive encephalopathy with ataxia, cognitive impairment, dyspraxia, and sensorineural hearing loss

  skeletal muscle genomic individual histochemistry biochemical direct

• CALHM1 P86L polymorphism does not alter amyloid-beta or tau in cerebrospinal fluid.

  PMID 20005921 · PMC2860374 · Neuroscience letters · 2010 · 5 claims · 4 setups

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  CALHM1 P86L genotype does not significantly alter CSF levels of Aβ42, total tau, or phospho-tau in AD or other cognitive disorder patients

  swedish csf snp

• Revised annotations, sex-biased expression, and lineage-specific genes in the Drosophila melanogaster group.

  PMID 25273863 · PMC4267930 · G3 (Bethesda, Md.) · 2014 · 8 claims · 6 setups

  Has reproduction · 58

  Revised RNA-seq-based gene models for D. ananassae, D. yakuba, and D. simulans include UTRs, empirically verified intron-exon boundaries, and previously unannotated novel exons, improving on r1.3 comparative-genomics annotations that lack UTRs.

  dissected concatenated yakuba reference whole-transcriptome novo read

• A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction.

  PMID 19956411 · PMC2786888 · Molecular vision · 2009 · 6 claims · 7 setups

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  A novel de novo heterozygous nonsense mutation (c.413C>G, p.S138X) in OTX2 causes an early onset retinal dystrophy accompanied by pituitary dysfunction (growth hormone deficiency)

  genomic anonymous single direct lca mismatch

• BFAST: an alignment tool for large scale genome resequencing.

  PMID 19907642 · PMC2770639 · PloS one · 2009 · 7 claims · 4 setups

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  BFAST is a new algorithm and freely available software tool for aligning large-scale short-read sequencing data to large reference genomes with user-customizable speed and accuracy

  reference genome simulated real-world k-mer

• Microdroplet-based PCR enrichment for large-scale targeted sequencing.

  PMID 19881494 · PMC2779736 · Nature biotechnology · 2009 · 7 claims · 5 setups

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  Microdroplet PCR enables massively parallel singleplex amplification (up to ~1.5 million reactions, up to 4,000 targets) for targeted sequencing enrichment

  genomic single targeted scale-up variant

• 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

• Ancient gene duplicates in Gossypium (cotton) exhibit near-complete expression divergence.

  PMID 24558256 · PMC3971588 · Genome biology and evolution · 2014 · 8 claims · 8 setups

  Has reproduction · 50

  Nearly all (99.4%) ancient paralog pairs in Gossypium raimondii are differentially expressed in at least one of three tissues (petal, leaf, seed), indicating massive, near-complete expression-level divergence.

  gossypium transcripts uq-normalized differentially comparative coding bulk

• An initial characterization of the serum phosphoproteome.

  PMID 19824718 · PMC2789176 · Journal of proteome research · 2009 · 8 claims · 8 setups

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  A TiO2-based phosphopeptide enrichment method coupled with LC-MS/MS (LTQ-Orbitrap CID and LTQ-ETD) was developed and applied to characterize the serum phosphoproteome

  u266 serum lc-ms immunoprecipitation sensitivity

• Mutations at codons 178, 200-129, and 232 contributed to the inherited prion diseases in Korean patients.

  PMID 19698114 · PMC2749045 · BMC infectious diseases · 2009 · 8 claims · 7 setups

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  Three PRNP mutations—D178N, E200K, and M232R—were identified in heterozygosity in Korean probable CJD patients, marking their first report in this population.

  csf 293t genomic pcr western recombinant sequencing

• Recurring mutations found by sequencing an acute myeloid leukemia genome.

  PMID 19657110 · PMC3201812 · The New England journal of medicine · 2009 · 8 claims · 8 setups

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  Deep paired tumor/normal whole-genome sequencing of a cytogenetically normal AML-M1 genome identified 12 somatic coding (tier 1) mutations and 52 somatic tier 2 (conserved/regulatory) mutations.

  aml-m1 tumor bone additional whole-genome snp gene-expression

• Local combinational variables: an approach used in DNA-binding helix-turn-helix motif prediction with sequence information.

  PMID 19651875 · PMC2761287 · Nucleic acids research · 2009 · 8 claims · 7 setups

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  The LCV approach predicts HTH motifs with 93.29% accuracy, 93.93% sensitivity and 92.66% specificity using only primary sequence information

  quintessentialset-88 hth same newly lcs svm traditional

• Cancer-wide in silico analyses using differentially expressed genes demonstrate the functions and clinical relevance of JAG, DLL, and NOTCH.

  PMID 39074091 · PMC11285958 · PloS one · 2024 · 7 claims · 8 setups

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  JAG, DLL, and NOTCH family gene/protein expression varies diversely across 15 cancer types relative to normal tissue, sometimes discordant between mRNA and protein levels.

  tumor degs cancer jag bulk proteomics gene

• nf-core/mag: a best-practice pipeline for metagenome hybrid assembly and binning.

  PMID 35118380 · PMC8808542 · NAR genomics and bioinformatics · 2022 · 8 claims · 7 setups

  Has reproduction · 100

  nf-core/mag is a Nextflow/nf-core pipeline for hybrid metagenome assembly, binning and taxonomic classification of MAGs.

  simulated assembled mags raw metagenomic novo genome